Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 18 44470593 44470593 + Frame_Shift_Del DEL T T - TCGA-OR-A5LB-01A-11D-A29I-10 TCGA-OR-A5LB-10A-01D-A29L-10 g.chr18:44470593delT c.449delA c.(448-450)aatfs p.N150fs BLCA 18 44408028 44408028 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 g.chr18:44408028C>G c.1402G>C c.(1402-1404)Gat>Cat p.D468H BRCA 18 44392457 44392457 + Missense_Mutation SNP C C G TCGA-B6-A0RG-01A-11W-A071-09 TCGA-B6-A0RG-10A-01W-A071-09 g.chr18:44392457C>G c.1805G>C c.(1804-1806)aGt>aCt p.S602T BRCA 18 44398376 44398376 + Intron SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr18:44398376C>T BRCA 18 44400931 44400931 + Missense_Mutation SNP T T C TCGA-E2-A14P-01A-31D-A12B-09 TCGA-E2-A14P-10A-01D-A12B-09 g.chr18:44400931T>C c.1613A>G c.(1612-1614)cAt>cGt p.H538R BRCA 18 44407973 44407973 + Missense_Mutation SNP G G A TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 g.chr18:44407973G>A c.1457C>T c.(1456-1458)gCc>gTc p.A486V BRCA 18 44409752 44409752 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 g.chr18:44409752C>T c.1281G>A c.(1279-1281)atG>atA p.M427I BRCA 18 44416348 44416349 + Frame_Shift_Ins INS - - T TCGA-D8-A1JG-01B-11D-A13L-09 TCGA-D8-A1JG-10A-01D-A13O-09 g.chr18:44416348_44416349insT c.1173_1174insA c.(1171-1176)aaagctfs p.A392fs BRCA 18 44470866 44470866 + Missense_Mutation SNP T T C TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr18:44470866T>C c.176A>G c.(175-177)gAa>gGa p.E59G BRCA 18 44470887 44470887 + Missense_Mutation SNP G G A TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr18:44470887G>A c.155C>T c.(154-156)gCg>gTg p.A52V CESC 18 44407992 44407992 + Missense_Mutation SNP C C T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 g.chr18:44407992C>T c.1438G>A c.(1438-1440)Gaa>Aaa p.E480K COAD 18 44400988 44400988 + Missense_Mutation SNP G G A TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr18:44400988G>A c.1556C>T c.(1555-1557)tCg>tTg p.S519L COAD 18 44400988 44400988 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr18:44400988G>A c.1556C>T c.(1555-1557)tCg>tTg p.S519L COAD 18 44400988 44400988 + Missense_Mutation SNP G G A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr18:44400988G>A c.1556C>T c.(1555-1557)tCg>tTg p.S519L COAD 18 44408070 44408070 + Missense_Mutation SNP A A G TCGA-CM-5860-01A-01D-1650-10 TCGA-CM-5860-10A-01D-1650-10 g.chr18:44408070A>G c.1360T>C c.(1360-1362)Tgt>Cgt p.C454R COAD 18 44470622 44470622 + Silent SNP A A G TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr18:44470622A>G c.420T>C c.(418-420)ccT>ccC p.P140P COADREAD 18 44395301 44395301 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr18:44395301G>T c.1660C>A c.(1660-1662)Ctt>Att p.L554I COADREAD 18 44400988 44400988 + Missense_Mutation SNP G G A TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr18:44400988G>A c.1556C>T c.(1555-1557)tCg>tTg p.S519L COADREAD 18 44400988 44400988 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr18:44400988G>A c.1556C>T c.(1555-1557)tCg>tTg p.S519L COADREAD 18 44400988 44400988 + Missense_Mutation SNP G G A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr18:44400988G>A c.1556C>T c.(1555-1557)tCg>tTg p.S519L COADREAD 18 44408070 44408070 + Missense_Mutation SNP A A G TCGA-CM-5860-01A-01D-1650-10 TCGA-CM-5860-10A-01D-1650-10 g.chr18:44408070A>G c.1360T>C c.(1360-1362)Tgt>Cgt p.C454R COADREAD 18 44470622 44470622 + Silent SNP A A G TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr18:44470622A>G c.420T>C c.(418-420)ccT>ccC p.P140P ESCA 18 44424026 44424026 + Silent SNP C C T TCGA-M9-A5M8-01A-11D-A28B-09 TCGA-M9-A5M8-10A-01D-A28E-09 g.chr18:44424026C>T c.1032G>A c.(1030-1032)ttG>ttA p.L344L HNSC 18 44392405 44392405 + Silent SNP T T G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 g.chr18:44392405T>G c.1857A>C c.(1855-1857)tcA>tcC p.S619S HNSC 18 44407983 44407983 + Missense_Mutation SNP C C G TCGA-UF-A7JT-01A-11D-A34J-08 TCGA-UF-A7JT-10A-01D-A34M-08 g.chr18:44407983C>G c.1447G>C c.(1447-1449)Gac>Cac p.D483H HNSC 18 44409730 44409730 + Missense_Mutation SNP T T C TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 g.chr18:44409730T>C c.1303A>G c.(1303-1305)Aaa>Gaa p.K435E HNSC 18 44424058 44424058 + Nonsense_Mutation SNP C C A TCGA-CV-7253-01A-11D-2012-08 TCGA-CV-7253-10A-01D-2013-08 g.chr18:44424058C>A c.1000G>T c.(1000-1002)Gaa>Taa p.E334* HNSC 18 44424064 44424064 + Missense_Mutation SNP C C G TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 g.chr18:44424064C>G c.994G>C c.(994-996)Gat>Cat p.D332H KICH 18 44409771 44409771 + Missense_Mutation SNP T T A TCGA-KL-8324-01A-11D-2310-10 TCGA-KL-8324-11A-01D-2310-10 g.chr18:44409771T>A c.1262A>T c.(1261-1263)gAt>gTt p.D421V KIPAN 18 44409771 44409771 + Missense_Mutation SNP T T A TCGA-KL-8324-01A-11D-2310-10 TCGA-KL-8324-11A-01D-2310-10 g.chr18:44409771T>A c.1262A>T c.(1261-1263)gAt>gTt p.D421V KIPAN 18 44416377 44416377 + Missense_Mutation SNP G G A TCGA-A4-A6HP-01A-11D-A31X-10 TCGA-A4-A6HP-10A-01D-A31X-10 g.chr18:44416377G>A c.1145C>T c.(1144-1146)aCc>aTc p.T382I KIPAN 18 44416418 44416418 + Missense_Mutation SNP A A T TCGA-GL-A9DC-01A-11D-A36X-10 TCGA-GL-A9DC-10A-01D-A370-10 g.chr18:44416418A>T c.1104T>A c.(1102-1104)ttT>ttA p.F368L KIPAN 18 44424802 44424803 + Splice_Site DEL TC TC - TCGA-B8-5553-01A-01D-1534-10 TCGA-B8-5553-10A-01D-1535-10 g.chr18:44424802_44424803delTC c.862delGA c.(862-864)gaa>aa p.E288fs KIRC 18 44424802 44424803 + Splice_Site DEL TC TC - TCGA-B8-5553-01A-01D-1534-10 TCGA-B8-5553-10A-01D-1535-10 g.chr18:44424802_44424803delTC c.862delGA c.(862-864)gaa>aa p.E288fs KIRP 18 44416377 44416377 + Missense_Mutation SNP G G A TCGA-A4-A6HP-01A-11D-A31X-10 TCGA-A4-A6HP-10A-01D-A31X-10 g.chr18:44416377G>A c.1145C>T c.(1144-1146)aCc>aTc p.T382I KIRP 18 44416418 44416418 + Missense_Mutation SNP A A T TCGA-GL-A9DC-01A-11D-A36X-10 TCGA-GL-A9DC-10A-01D-A370-10 g.chr18:44416418A>T c.1104T>A c.(1102-1104)ttT>ttA p.F368L LIHC 18 44400939 44400939 + Silent SNP T T C TCGA-DD-AACT-01A-11D-A40R-10 TCGA-DD-AACT-10A-01D-A40U-10 g.chr18:44400939T>C c.1605A>G c.(1603-1605)ccA>ccG p.P535P LIHC 18 44408008 44408008 + Silent SNP T T G TCGA-ED-A7PZ-01A-11D-A33Q-10 TCGA-ED-A7PZ-10A-01D-A33Q-10 g.chr18:44408008T>G c.1422A>C c.(1420-1422)atA>atC p.I474I LIHC 18 44444168 44444168 + Frame_Shift_Del DEL A A - TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr18:44444168delA c.543delT c.(541-543)tttfs p.F181fs LIHC 18 44444168 44444168 + Frame_Shift_Del DEL A A - TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr18:44444168delA c.543delT c.(541-543)tttfs p.F181fs LUAD 18 44416466 44416466 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 g.chr18:44416466C>A c.1056G>T c.(1054-1056)agG>agT p.R352S LUAD 18 44416467 44416467 + Missense_Mutation SNP C C A TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 g.chr18:44416467C>A c.1055G>T c.(1054-1056)aGg>aTg p.R352M LUAD 18 44424712 44424712 + Missense_Mutation SNP G G A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 g.chr18:44424712G>A c.952C>T c.(952-954)Cat>Tat p.H318Y LUAD 18 44435364 44435364 + Missense_Mutation SNP C C A TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 g.chr18:44435364C>A c.670G>T c.(670-672)Gat>Tat p.D224Y LUAD 18 44435527 44435527 + Splice_Site SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr18:44435527C>T c.e4+1 LUAD 18 44470569 44470579 + Frame_Shift_Del DEL TCAAGGACATC TCAAGGACATC - TCGA-91-8499-01A-11D-2393-08 TCGA-91-8499-10A-01D-2393-08 g.chr18:44470569_44470579delTCAAGGACATC c.463_473delGATGTCCTTGA c.(463-474)gatgtccttgatfs p.DVLD155fs LUSC 18 44416462 44416462 + Missense_Mutation SNP T T A TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 g.chr18:44416462T>A c.1060A>T c.(1060-1062)Aca>Tca p.T354S LUSC 18 44470609 44470609 + Missense_Mutation SNP C C T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 g.chr18:44470609C>T c.433G>A c.(433-435)Gat>Aat p.D145N LUSC 18 44470757 44470757 + Silent SNP G G A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 g.chr18:44470757G>A c.285C>T c.(283-285)gaC>gaT p.D95D OV 18 44400988 44400988 + Missense_Mutation SNP G G A TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 g.chr18:44400988G>A c.1556C>T c.(1555-1557)tCg>tTg p.S519L OV 18 44408069 44408069 + Missense_Mutation SNP C C A TCGA-09-1659-01B-01W-0615-10 TCGA-09-1659-10A-01W-0616-10 g.chr18:44408069C>A c.1361G>T c.(1360-1362)tGt>tTt p.C454F OV 18 44435553 44435553 + Missense_Mutation SNP C C A TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 g.chr18:44435553C>A c.610G>T c.(610-612)Gat>Tat p.D204Y PAAD 18 44435568 44435568 + Missense_Mutation SNP G G A TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 g.chr18:44435568G>A c.595C>T c.(595-597)Cca>Tca p.P199S PAAD 18 44470558 44470558 + Missense_Mutation SNP T T C TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 g.chr18:44470558T>C c.484A>G c.(484-486)Aag>Gag p.K162E PAAD 18 44470643 44470643 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr18:44470643C>A c.399G>T c.(397-399)caG>caT p.Q133H PAAD 18 44470901 44470901 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr18:44470901G>A c.141C>T c.(139-141)agC>agT p.S47S READ 18 44395301 44395301 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr18:44395301G>T c.1660C>A c.(1660-1662)Ctt>Att p.L554I SKCM 18 44408073 44408073 + Missense_Mutation SNP G G A TCGA-EE-A17Y-06A-11D-A196-08 TCGA-EE-A17Y-10B-01D-A198-08 g.chr18:44408073G>A c.1357C>T c.(1357-1359)Cct>Tct p.P453S SKCM 18 44409801 44409801 + Missense_Mutation SNP G G A TCGA-ER-A19M-06A-61D-A23B-08 TCGA-ER-A19M-10A-01D-A23B-08 g.chr18:44409801G>A c.1232C>T c.(1231-1233)tCt>tTt p.S411F SKCM 18 44424036 44424036 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 g.chr18:44424036C>T c.1022G>A c.(1021-1023)cGg>cAg p.R341Q SKCM 18 44426691 44426691 + Silent SNP A A C TCGA-DA-A1HW-06A-11D-A19A-08 TCGA-DA-A1HW-10A-01D-A19A-08 g.chr18:44426691A>C c.840T>G c.(838-840)tcT>tcG p.S280S SKCM 18 44426698 44426698 + Missense_Mutation SNP G G A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr18:44426698G>A c.833C>T c.(832-834)tCc>tTc p.S278F SKCM 18 44470728 44470728 + Missense_Mutation SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr18:44470728G>A c.314C>T c.(313-315)cCt>cTt p.P105L SKCM 18 44470763 44470763 + Silent SNP T T C TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr18:44470763T>C c.279A>G c.(277-279)gaA>gaG p.E93E

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 18 44398381 44398381 single base substitution C T intron_variant BLCA-CN 18 44398381 44398381 single base substitution C T missense_variant E270K 808G>A BLCA-CN 18 44398381 44398381 single base substitution C T missense_variant E560K 1678G>A BOCA-FR 18 44400936 44400936 insertion of <=200bp - TG 3_prime_UTR_variant BOCA-FR 18 44400936 44400936 insertion of <=200bp - TG frameshift_variant F246F? BOCA-FR 18 44400936 44400936 insertion of <=200bp - TG frameshift_variant F536F? BOCA-FR 18 44486740 44486740 single base substitution G T downstream_gene_variant BOCA-FR 18 44486740 44486740 single base substitution G T intron_variant BOCA-FR 18 44486740 44486740 single base substitution G T upstream_gene_variant BOCA-FR 18 44489819 44489819 single base substitution T A intron_variant BOCA-FR 18 44489819 44489819 single base substitution T A upstream_gene_variant BRCA-EU 18 44383586 44383586 single base substitution C G downstream_gene_variant BRCA-EU 18 44385978 44385978 single base substitution C G downstream_gene_variant BRCA-EU 18 44390135 44390135 single base substitution C G 3_prime_UTR_variant BRCA-EU 18 44390135 44390135 single base substitution C G downstream_gene_variant BRCA-EU 18 44390262 44390262 single base substitution T G 3_prime_UTR_variant BRCA-EU 18 44390262 44390262 single base substitution T G downstream_gene_variant BRCA-EU 18 44391403 44391403 single base substitution G C 3_prime_UTR_variant BRCA-EU 18 44391403 44391403 single base substitution G C downstream_gene_variant BRCA-EU 18 44392554 44392554 single base substitution C A 3_prime_UTR_variant BRCA-EU 18 44392554 44392554 single base substitution C A missense_variant D570Y 1708G>T BRCA-EU 18 44395419 44395419 single base substitution T G downstream_gene_variant BRCA-EU 18 44395419 44395419 single base substitution T G intron_variant BRCA-EU 18 44396159 44396159 single base substitution C G downstream_gene_variant BRCA-EU 18 44396159 44396159 single base substitution C G intron_variant BRCA-EU 18 44396346 44396346 insertion of <=200bp - T downstream_gene_variant BRCA-EU 18 44396346 44396346 insertion of <=200bp - T intron_variant BRCA-EU 18 44396706 44396706 single base substitution C G downstream_gene_variant BRCA-EU 18 44396706 44396706 single base substitution C G intron_variant BRCA-EU 18 44397743 44397743 single base substitution G C downstream_gene_variant BRCA-EU 18 44397743 44397743 single base substitution G C intron_variant BRCA-EU 18 44398139 44398139 single base substitution G C downstream_gene_variant BRCA-EU 18 44398139 44398139 single base substitution G C intron_variant BRCA-EU 18 44399700 44399700 single base substitution C T intron_variant BRCA-EU 18 44400090 44400090 single base substitution C G intron_variant BRCA-EU 18 44402256 44402256 single base substitution A C intron_variant BRCA-EU 18 44402439 44402439 single base substitution G T downstream_gene_variant BRCA-EU 18 44402439 44402439 single base substitution G T intron_variant BRCA-EU 18 44403195 44403195 single base substitution C T downstream_gene_variant BRCA-EU 18 44403195 44403195 single base substitution C T intron_variant BRCA-EU 18 44404542 44404542 single base substitution G C downstream_gene_variant BRCA-EU 18 44404542 44404542 single base substitution G C intron_variant BRCA-EU 18 44406820 44406820 single base substitution C G downstream_gene_variant BRCA-EU 18 44406820 44406820 single base substitution C G intron_variant BRCA-EU 18 44407037 44407037 single base substitution G A downstream_gene_variant BRCA-EU 18 44407037 44407037 single base substitution G A intron_variant BRCA-EU 18 44407708 44407708 single base substitution C T downstream_gene_variant BRCA-EU 18 44407708 44407708 single base substitution C T exon_variant BRCA-EU 18 44407708 44407708 single base substitution C T intron_variant BRCA-EU 18 44409790 44409790 single base substitution C T 3_prime_UTR_variant BRCA-EU 18 44409790 44409790 single base substitution C T exon_variant BRCA-EU 18 44409790 44409790 single base substitution C T missense_variant E125K 373G>A BRCA-EU 18 44409790 44409790 single base substitution C T missense_variant E415K 1243G>A BRCA-EU 18 44410530 44410530 insertion of <=200bp - A intron_variant BRCA-EU 18 44412145 44412145 single base substitution T C downstream_gene_variant BRCA-EU 18 44412145 44412145 single base substitution T C intron_variant BRCA-EU 18 44412784 44412784 single base substitution G T downstream_gene_variant BRCA-EU 18 44412784 44412784 single base substitution G T intron_variant BRCA-EU 18 44414242 44414242 deletion of <=200bp A - downstream_gene_variant BRCA-EU 18 44414242 44414242 deletion of <=200bp A - intron_variant BRCA-EU 18 44414926 44414926 single base substitution T G downstream_gene_variant BRCA-EU 18 44414926 44414926 single base substitution T G intron_variant BRCA-EU 18 44414953 44414953 single base substitution G T downstream_gene_variant BRCA-EU 18 44414953 44414953 single base substitution G T intron_variant BRCA-EU 18 44416388 44416388 single base substitution C T 3_prime_UTR_variant BRCA-EU 18 44416388 44416388 single base substitution C T exon_variant BRCA-EU 18 44416388 44416388 single base substitution C T synonymous_variant E378E 1134G>A BRCA-EU 18 44416388 44416388 single base substitution C T synonymous_variant E88E 264G>A BRCA-EU 18 44416469 44416469 single base substitution C T 3_prime_UTR_variant BRCA-EU 18 44416469 44416469 single base substitution C T exon_variant BRCA-EU 18 44416469 44416469 single base substitution C T missense_variant M351I 1053G>A BRCA-EU 18 44416469 44416469 single base substitution C T missense_variant M61I 183G>A BRCA-EU 18 44416793 44416793 single base substitution C T intron_variant BRCA-EU 18 44418973 44418973 single base substitution C T downstream_gene_variant BRCA-EU 18 44418973 44418973 single base substitution C T intron_variant BRCA-EU 18 44419453 44419453 deletion of <=200bp T - downstream_gene_variant BRCA-EU 18 44419453 44419453 deletion of <=200bp T - intron_variant BRCA-EU 18 44419490 44419490 single base substitution C T downstream_gene_variant BRCA-EU 18 44419490 44419490 single base substitution C T intron_variant BRCA-EU 18 44419946 44419946 single base substitution A T downstream_gene_variant BRCA-EU 18 44419946 44419946 single base substitution A T intron_variant BRCA-EU 18 44420979 44420979 single base substitution C G downstream_gene_variant BRCA-EU 18 44420979 44420979 single base substitution C G intron_variant BRCA-EU 18 44421220 44421220 single base substitution C T downstream_gene_variant BRCA-EU 18 44421220 44421220 single base substitution C T intron_variant BRCA-EU 18 44421369 44421369 single base substitution G A downstream_gene_variant BRCA-EU 18 44421369 44421369 single base substitution G A intron_variant BRCA-EU 18 44421512 44421512 single base substitution C T downstream_gene_variant BRCA-EU 18 44421512 44421512 single base substitution C T intron_variant BRCA-EU 18 44421576 44421576 single base substitution C G downstream_gene_variant BRCA-EU 18 44421576 44421576 single base substitution C G intron_variant BRCA-EU 18 44422022 44422022 single base substitution C G downstream_gene_variant BRCA-EU 18 44422022 44422022 single base substitution C G intron_variant BRCA-EU 18 44422601 44422601 single base substitution C T downstream_gene_variant BRCA-EU 18 44422601 44422601 single base substitution C T intron_variant BRCA-EU 18 44422760 44422760 single base substitution C G downstream_gene_variant BRCA-EU 18 44422760 44422760 single base substitution C G intron_variant BRCA-EU 18 44422760 44422760 single base substitution C T downstream_gene_variant BRCA-EU 18 44422760 44422760 single base substitution C T intron_variant BRCA-EU 18 44422931 44422931 single base substitution C T downstream_gene_variant BRCA-EU 18 44422931 44422931 single base substitution C T intron_variant BRCA-EU 18 44423922 44423922 single base substitution C T downstream_gene_variant BRCA-EU 18 44423922 44423922 single base substitution C T exon_variant BRCA-EU 18 44423922 44423922 single base substitution C T intron_variant BRCA-EU 18 44424076 44424076 single base substitution T G 3_prime_UTR_variant BRCA-EU 18 44424076 44424076 single base substitution T G downstream_gene_variant BRCA-EU 18 44424076 44424076 single base substitution T G exon_variant BRCA-EU 18 44424076 44424076 single base substitution T G missense_variant T328P 982A>C BRCA-EU 18 44424076 44424076 single base substitution T G missense_variant T38P 112A>C BRCA-EU 18 44424222 44424222 single base substitution T A downstream_gene_variant BRCA-EU 18 44424222 44424222 single base substitution T A intron_variant BRCA-EU 18 44425004 44425004 single base substitution C G downstream_gene_variant BRCA-EU 18 44425004 44425004 single base substitution C G intron_variant BRCA-EU 18 44425004 44425004 single base substitution C G upstream_gene_variant BRCA-EU 18 44425332 44425332 single base substitution G C downstream_gene_variant BRCA-EU 18 44425332 44425332 single base substitution G C intron_variant BRCA-EU 18 44425332 44425332 single base substitution G C upstream_gene_variant BRCA-EU 18 44425422 44425422 single base substitution G A downstream_gene_variant BRCA-EU 18 44425422 44425422 single base substitution G A intron_variant BRCA-EU 18 44425422 44425422 single base substitution G A upstream_gene_variant BRCA-EU 18 44425604 44425604 single base substitution A C downstream_gene_variant BRCA-EU 18 44425604 44425604 single base substitution A C intron_variant BRCA-EU 18 44425604 44425604 single base substitution A C upstream_gene_variant BRCA-EU 18 44426254 44426254 single base substitution G A downstream_gene_variant BRCA-EU 18 44426254 44426254 single base substitution G A intron_variant BRCA-EU 18 44426254 44426254 single base substitution G A upstream_gene_variant BRCA-EU 18 44426343 44426343 single base substitution C T downstream_gene_variant BRCA-EU 18 44426343 44426343 single base substitution C T intron_variant BRCA-EU 18 44426343 44426343 single base substitution C T upstream_gene_variant BRCA-EU 18 44426620 44426620 single base substitution C G exon_variant BRCA-EU 18 44426620 44426620 single base substitution C G intron_variant BRCA-EU 18 44426620 44426620 single base substitution C G upstream_gene_variant BRCA-EU 18 44426817 44426817 single base substitution G A intron_variant BRCA-EU 18 44426817 44426817 single base substitution G A upstream_gene_variant BRCA-EU 18 44426976 44426976 single base substitution G A intron_variant BRCA-EU 18 44426976 44426976 single base substitution G A upstream_gene_variant BRCA-EU 18 44427248 44427248 single base substitution C T intron_variant BRCA-EU 18 44427248 44427248 single base substitution C T upstream_gene_variant BRCA-EU 18 44428067 44428067 single base substitution C T intron_variant BRCA-EU 18 44428067 44428067 single base substitution C T upstream_gene_variant BRCA-EU 18 44428367 44428367 single base substitution C G intron_variant BRCA-EU 18 44428367 44428367 single base substitution C G upstream_gene_variant BRCA-EU 18 44432846 44432846 single base substitution G A intron_variant BRCA-EU 18 44433706 44433706 single base substitution C G intron_variant BRCA-EU 18 44434089 44434089 single base substitution G T intron_variant BRCA-EU 18 44436749 44436749 single base substitution C G intron_variant BRCA-EU 18 44437107 44437107 single base substitution G A intron_variant BRCA-EU 18 44437749 44437749 single base substitution C T intron_variant BRCA-EU 18 44437766 44437789 deletion of <=200bp CAATCACTGTTCTAGGAAGTTTTA - intron_variant BRCA-EU 18 44438679 44438679 single base substitution C G intron_variant BRCA-EU 18 44441180 44441180 single base substitution C T intron_variant BRCA-EU 18 44441697 44441697 single base substitution C A intron_variant BRCA-EU 18 44442218 44442218 single base substitution C T intron_variant BRCA-EU 18 44443474 44443478 deletion of <=200bp CTGGT - intron_variant BRCA-EU 18 44443618 44443618 single base substitution T C intron_variant BRCA-EU 18 44444477 44444477 single base substitution T C intron_variant BRCA-EU 18 44444477 44444477 single base substitution T C upstream_gene_variant BRCA-EU 18 44445909 44445909 single base substitution C T intron_variant BRCA-EU 18 44445909 44445909 single base substitution C T upstream_gene_variant BRCA-EU 18 44446386 44446386 single base substitution A G intron_variant BRCA-EU 18 44446386 44446386 single base substitution A G upstream_gene_variant BRCA-EU 18 44446598 44446598 single base substitution C A intron_variant BRCA-EU 18 44446598 44446598 single base substitution C A upstream_gene_variant BRCA-EU 18 44447469 44447469 single base substitution T G intron_variant BRCA-EU 18 44447469 44447469 single base substitution T G upstream_gene_variant BRCA-EU 18 44449785 44449785 single base substitution A G intron_variant BRCA-EU 18 44451543 44451543 single base substitution C G intron_variant BRCA-EU 18 44453007 44453007 single base substitution G C intron_variant BRCA-EU 18 44453857 44453857 single base substitution C T intron_variant BRCA-EU 18 44453875 44453875 single base substitution C T intron_variant BRCA-EU 18 44454449 44454449 single base substitution T G intron_variant BRCA-EU 18 44455201 44455201 single base substitution C T intron_variant BRCA-EU 18 44455440 44455440 single base substitution G A intron_variant BRCA-EU 18 44455896 44455896 single base substitution G T intron_variant BRCA-EU 18 44456678 44456678 single base substitution G C intron_variant BRCA-EU 18 44459415 44459415 single base substitution C T intron_variant BRCA-EU 18 44459809 44459809 single base substitution T C intron_variant BRCA-EU 18 44460745 44460745 single base substitution C G intron_variant BRCA-EU 18 44461993 44461993 single base substitution G A intron_variant BRCA-EU 18 44463280 44463280 single base substitution T C intron_variant BRCA-EU 18 44466809 44466809 deletion of <=200bp A - downstream_gene_variant BRCA-EU 18 44466809 44466809 deletion of <=200bp A - intron_variant BRCA-EU 18 44467297 44467297 single base substitution C T downstream_gene_variant BRCA-EU 18 44467297 44467297 single base substitution C T intron_variant BRCA-EU 18 44467516 44467516 single base substitution T G downstream_gene_variant BRCA-EU 18 44467516 44467516 single base substitution T G intron_variant BRCA-EU 18 44468224 44468224 single base substitution T C downstream_gene_variant BRCA-EU 18 44468224 44468224 single base substitution T C intron_variant BRCA-EU 18 44468806 44468806 single base substitution C T downstream_gene_variant BRCA-EU 18 44468806 44468806 single base substitution C T intron_variant BRCA-EU 18 44470380 44470380 single base substitution T C downstream_gene_variant BRCA-EU 18 44470380 44470380 single base substitution T C intron_variant BRCA-EU 18 44470959 44470959 single base substitution C T downstream_gene_variant BRCA-EU 18 44470959 44470959 single base substitution C T exon_variant BRCA-EU 18 44470959 44470959 single base substitution C T intron_variant BRCA-EU 18 44470959 44470959 single base substitution C T missense_variant R19Q 56G>A BRCA-EU 18 44470959 44470959 single base substitution C T missense_variant R26Q 77G>A BRCA-EU 18 44470959 44470959 single base substitution C T missense_variant R28Q 83G>A BRCA-EU 18 44470959 44470959 single base substitution C T missense_variant R56Q 167G>A BRCA-EU 18 44470959 44470959 single base substitution C T missense_variant R62Q 185G>A BRCA-EU 18 44472239 44472239 insertion of <=200bp - A intron_variant BRCA-EU 18 44472334 44472334 single base substitution G C intron_variant BRCA-EU 18 44472643 44472643 single base substitution G A intron_variant BRCA-EU 18 44473306 44473306 single base substitution T C intron_variant BRCA-EU 18 44473790 44473790 deletion of <=200bp A - intron_variant BRCA-EU 18 44474127 44474127 single base substitution A T intron_variant BRCA-EU 18 44474410 44474410 single base substitution C G intron_variant BRCA-EU 18 44474504 44474504 single base substitution C T intron_variant BRCA-EU 18 44475056 44475056 single base substitution A T intron_variant BRCA-EU 18 44476275 44476275 single base substitution C A intron_variant BRCA-EU 18 44476852 44476852 single base substitution C G intron_variant BRCA-EU 18 44477169 44477169 single base substitution A G intron_variant BRCA-EU 18 44477841 44477841 single base substitution T G intron_variant BRCA-EU 18 44477866 44477866 single base substitution G C intron_variant BRCA-EU 18 44478359 44478359 single base substitution G A intron_variant BRCA-EU 18 44478568 44478568 single base substitution G C intron_variant BRCA-EU 18 44480047 44480047 single base substitution G C intron_variant BRCA-EU 18 44481130 44481130 single base substitution C T downstream_gene_variant BRCA-EU 18 44481130 44481130 single base substitution C T intron_variant BRCA-EU 18 44483296 44483296 single base substitution G T downstream_gene_variant BRCA-EU 18 44483296 44483296 single base substitution G T intron_variant BRCA-EU 18 44485546 44485546 single base substitution C G downstream_gene_variant BRCA-EU 18 44485546 44485546 single base substitution C G intron_variant BRCA-EU 18 44485546 44485546 single base substitution C G upstream_gene_variant BRCA-EU 18 44486739 44486739 single base substitution G T downstream_gene_variant BRCA-EU 18 44486739 44486739 single base substitution G T intron_variant BRCA-EU 18 44486739 44486739 single base substitution G T upstream_gene_variant BRCA-EU 18 44486973 44486973 single base substitution G T downstream_gene_variant BRCA-EU 18 44486973 44486973 single base substitution G T intron_variant BRCA-EU 18 44486973 44486973 single base substitution G T upstream_gene_variant BRCA-EU 18 44487668 44487678 deletion of <=200bp CAAATGCAGAT - exon_variant BRCA-EU 18 44487668 44487678 deletion of <=200bp CAAATGCAGAT - intron_variant BRCA-EU 18 44487668 44487678 deletion of <=200bp CAAATGCAGAT - upstream_gene_variant BRCA-EU 18 44488091 44488091 single base substitution G T intron_variant BRCA-EU 18 44488091 44488091 single base substitution G T upstream_gene_variant BRCA-EU 18 44488886 44488886 single base substitution C G intron_variant BRCA-EU 18 44488886 44488886 single base substitution C G upstream_gene_variant BRCA-EU 18 44488929 44488929 single base substitution G A intron_variant BRCA-EU 18 44488929 44488929 single base substitution G A upstream_gene_variant BRCA-EU 18 44489428 44489428 single base substitution C G intron_variant BRCA-EU 18 44489428 44489428 single base substitution C G upstream_gene_variant BRCA-EU 18 44489762 44489762 single base substitution C G intron_variant BRCA-EU 18 44489762 44489762 single base substitution C G upstream_gene_variant BRCA-EU 18 44490011 44490011 single base substitution C T intron_variant BRCA-EU 18 44490011 44490011 single base substitution C T upstream_gene_variant BRCA-EU 18 44491829 44491829 single base substitution C A intron_variant BRCA-EU 18 44491829 44491829 single base substitution C A upstream_gene_variant BRCA-EU 18 44492905 44492905 single base substitution C T intron_variant BRCA-EU 18 44492905 44492905 single base substitution C T upstream_gene_variant BRCA-EU 18 44493432 44493432 single base substitution C A intron_variant BRCA-EU 18 44494904 44494904 single base substitution C G intron_variant BRCA-EU 18 44498891 44498891 single base substitution G C intron_variant BRCA-EU 18 44498891 44498891 single base substitution G C upstream_gene_variant BRCA-EU 18 44499687 44499687 single base substitution G A intron_variant BRCA-EU 18 44499687 44499687 single base substitution G A upstream_gene_variant BRCA-EU 18 44500522 44500522 single base substitution C G upstream_gene_variant BRCA-EU 18 44502554 44502554 single base substitution C T upstream_gene_variant BRCA-EU 18 44504186 44504186 single base substitution T C upstream_gene_variant BRCA-EU 18 44504209 44504209 single base substitution T C upstream_gene_variant BRCA-FR 18 44385978 44385978 single base substitution C G downstream_gene_variant BRCA-FR 18 44391403 44391403 single base substitution G C 3_prime_UTR_variant BRCA-FR 18 44391403 44391403 single base substitution G C downstream_gene_variant BRCA-FR 18 44392554 44392554 single base substitution C A 3_prime_UTR_variant BRCA-FR 18 44392554 44392554 single base substitution C A missense_variant D570Y 1708G>T BRCA-FR 18 44398139 44398139 single base substitution G C downstream_gene_variant BRCA-FR 18 44398139 44398139 single base substitution G C intron_variant BRCA-FR 18 44406816 44406816 single base substitution A T downstream_gene_variant BRCA-FR 18 44406816 44406816 single base substitution A T intron_variant BRCA-FR 18 44409790 44409790 single base substitution C T 3_prime_UTR_variant BRCA-FR 18 44409790 44409790 single base substitution C T exon_variant BRCA-FR 18 44409790 44409790 single base substitution C T missense_variant E125K 373G>A BRCA-FR 18 44409790 44409790 single base substitution C T missense_variant E415K 1243G>A BRCA-FR 18 44419324 44419324 single base substitution C G downstream_gene_variant BRCA-FR 18 44419324 44419324 single base substitution C G intron_variant BRCA-FR 18 44419847 44419847 single base substitution C T downstream_gene_variant BRCA-FR 18 44419847 44419847 single base substitution C T intron_variant BRCA-FR 18 44423922 44423922 single base substitution C T downstream_gene_variant BRCA-FR 18 44423922 44423922 single base substitution C T exon_variant BRCA-FR 18 44423922 44423922 single base substitution C T intron_variant BRCA-FR 18 44454110 44454110 single base substitution T A intron_variant BRCA-FR 18 44461993 44461993 single base substitution G A intron_variant BRCA-FR 18 44463280 44463280 single base substitution T C intron_variant BRCA-FR 18 44473182 44473182 single base substitution C T intron_variant BRCA-FR 18 44477169 44477169 single base substitution A G intron_variant BRCA-FR 18 44497022 44497022 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant BRCA-FR 18 44497022 44497022 single base substitution C A intron_variant BRCA-UK 18 44395343 44395343 single base substitution C G downstream_gene_variant BRCA-UK 18 44395343 44395343 single base substitution C G intron_variant BRCA-UK 18 44415664 44415664 single base substitution C G downstream_gene_variant BRCA-UK 18 44415664 44415664 single base substitution C G intron_variant BRCA-UK 18 44419490 44419490 single base substitution C T downstream_gene_variant BRCA-UK 18 44419490 44419490 single base substitution C T intron_variant BRCA-UK 18 44428367 44428367 single base substitution C G intron_variant BRCA-UK 18 44428367 44428367 single base substitution C G upstream_gene_variant BRCA-UK 18 44434125 44434125 single base substitution C G intron_variant BRCA-UK 18 44453007 44453007 single base substitution G C intron_variant BRCA-UK 18 44476275 44476275 single base substitution C A intron_variant BRCA-UK 18 44483296 44483296 single base substitution G T downstream_gene_variant BRCA-UK 18 44483296 44483296 single base substitution G T intron_variant BRCA-UK 18 44501543 44501543 single base substitution G C upstream_gene_variant BRCA-UK 18 44501589 44501589 single base substitution G C upstream_gene_variant BRCA-US 18 44392457 44392457 single base substitution C G 3_prime_UTR_variant BRCA-US 18 44392457 44392457 single base substitution C G missense_variant S602T 1805G>C BRCA-US 18 44398376 44398376 single base substitution C T intron_variant BRCA-US 18 44398376 44398376 single base substitution C T synonymous_variant L271L 813G>A BRCA-US 18 44398376 44398376 single base substitution C T synonymous_variant L561L 1683G>A BRCA-US 18 44400931 44400931 single base substitution T C 3_prime_UTR_variant BRCA-US 18 44400931 44400931 single base substitution T C missense_variant H248R 743A>G BRCA-US 18 44400931 44400931 single base substitution T C missense_variant H538R 1613A>G BRCA-US 18 44407973 44407973 single base substitution G A 3_prime_UTR_variant BRCA-US 18 44407973 44407973 single base substitution G A exon_variant BRCA-US 18 44407973 44407973 single base substitution G A missense_variant A196V 587C>T BRCA-US 18 44407973 44407973 single base substitution G A missense_variant A486V 1457C>T BRCA-US 18 44409752 44409752 single base substitution C T 3_prime_UTR_variant BRCA-US 18 44409752 44409752 single base substitution C T exon_variant BRCA-US 18 44409752 44409752 single base substitution C T missense_variant M137I 411G>A BRCA-US 18 44409752 44409752 single base substitution C T missense_variant M427I 1281G>A BRCA-US 18 44416348 44416348 insertion of <=200bp - T 3_prime_UTR_variant BRCA-US 18 44416348 44416348 insertion of <=200bp - T exon_variant BRCA-US 18 44416348 44416348 insertion of <=200bp - T frameshift_variant A102D? BRCA-US 18 44416348 44416348 insertion of <=200bp - T frameshift_variant A392D? BRCA-US 18 44424815 44424815 deletion of <=200bp A - downstream_gene_variant BRCA-US 18 44424815 44424815 deletion of <=200bp A - exon_variant BRCA-US 18 44424815 44424815 deletion of <=200bp A - intron_variant BRCA-US 18 44470866 44470866 single base substitution T C downstream_gene_variant BRCA-US 18 44470866 44470866 single base substitution T C exon_variant BRCA-US 18 44470866 44470866 single base substitution T C intron_variant BRCA-US 18 44470866 44470866 single base substitution T C missense_variant E50G 149A>G BRCA-US 18 44470866 44470866 single base substitution T C missense_variant E57G 170A>G BRCA-US 18 44470866 44470866 single base substitution T C missense_variant E59G 176A>G BRCA-US 18 44470866 44470866 single base substitution T C missense_variant E87G 260A>G BRCA-US 18 44470866 44470866 single base substitution T C missense_variant E93G 278A>G BRCA-US 18 44470887 44470887 single base substitution G A downstream_gene_variant BRCA-US 18 44470887 44470887 single base substitution G A exon_variant BRCA-US 18 44470887 44470887 single base substitution G A intron_variant BRCA-US 18 44470887 44470887 single base substitution G A missense_variant A43V 128C>T BRCA-US 18 44470887 44470887 single base substitution G A missense_variant A50V 149C>T BRCA-US 18 44470887 44470887 single base substitution G A missense_variant A52V 155C>T BRCA-US 18 44470887 44470887 single base substitution G A missense_variant A80V 239C>T BRCA-US 18 44470887 44470887 single base substitution G A missense_variant A86V 257C>T BTCA-JP 18 44423969 44423969 single base substitution C T downstream_gene_variant BTCA-JP 18 44423969 44423969 single base substitution C T exon_variant BTCA-JP 18 44423969 44423969 single base substitution C T intron_variant BTCA-JP 18 44424117 44424117 single base substitution T A downstream_gene_variant BTCA-JP 18 44424117 44424117 single base substitution T A intron_variant BTCA-JP 18 44471028 44471028 single base substitution A G intron_variant BTCA-JP 18 44471030 44471030 deletion of <=200bp A - intron_variant BTCA-JP 18 44500001 44500001 single base substitution C A intron_variant BTCA-JP 18 44500001 44500001 single base substitution C A upstream_gene_variant CESC-US 18 44407992 44407992 single base substitution C T 3_prime_UTR_variant CESC-US 18 44407992 44407992 single base substitution C T exon_variant CESC-US 18 44407992 44407992 single base substitution C T missense_variant E190K 568G>A CESC-US 18 44407992 44407992 single base substitution C T missense_variant E480K 1438G>A CLLE-ES 18 44391417 44391417 single base substitution G T 3_prime_UTR_variant CLLE-ES 18 44391417 44391417 single base substitution G T downstream_gene_variant CLLE-ES 18 44426732 44426732 single base substitution C A 3_prime_UTR_variant CLLE-ES 18 44426732 44426732 single base substitution C A 5_prime_UTR_variant CLLE-ES 18 44426732 44426732 single base substitution C A exon_variant CLLE-ES 18 44426732 44426732 single base substitution C A missense_variant V267F 799G>T CLLE-ES 18 44426732 44426732 single base substitution C A upstream_gene_variant CLLE-ES 18 44430482 44430482 single base substitution A G intron_variant CLLE-ES 18 44439592 44439593 multiple base substitution (>=2bp and <=200bp) GC AA intron_variant CLLE-ES 18 44446303 44446303 single base substitution A G intron_variant CLLE-ES 18 44446303 44446303 single base substitution A G upstream_gene_variant CLLE-ES 18 44447734 44447734 single base substitution G A intron_variant CLLE-ES 18 44447734 44447734 single base substitution G A upstream_gene_variant CLLE-ES 18 44455181 44455181 single base substitution G A intron_variant CLLE-ES 18 44463371 44463371 single base substitution T C intron_variant CLLE-ES 18 44465744 44465744 single base substitution C G downstream_gene_variant CLLE-ES 18 44465744 44465744 single base substitution C G intron_variant CLLE-ES 18 44469615 44469615 single base substitution G A downstream_gene_variant CLLE-ES 18 44469615 44469615 single base substitution G A intron_variant CLLE-ES 18 44479646 44479646 single base substitution T G intron_variant CLLE-ES 18 44492594 44492594 single base substitution A G intron_variant CLLE-ES 18 44492594 44492594 single base substitution A G upstream_gene_variant CLLE-ES 18 44499381 44499381 single base substitution G A intron_variant CLLE-ES 18 44499381 44499381 single base substitution G A upstream_gene_variant CLLE-ES 18 44504552 44504552 single base substitution G A upstream_gene_variant COAD-US 18 44400988 44400988 single base substitution G A 3_prime_UTR_variant COAD-US 18 44400988 44400988 single base substitution G A missense_variant S229L 686C>T COAD-US 18 44400988 44400988 single base substitution G A missense_variant S519L 1556C>T COAD-US 18 44416386 44416386 single base substitution T C 3_prime_UTR_variant COAD-US 18 44416386 44416386 single base substitution T C exon_variant COAD-US 18 44416386 44416386 single base substitution T C missense_variant K379R 1136A>G COAD-US 18 44416386 44416386 single base substitution T C missense_variant K89R 266A>G COAD-US 18 44426805 44426805 single base substitution C A splice_acceptor_variant COAD-US 18 44426805 44426805 single base substitution C A upstream_gene_variant COAD-US 18 44470622 44470622 single base substitution A G downstream_gene_variant COAD-US 18 44470622 44470622 single base substitution A G exon_variant COAD-US 18 44470622 44470622 single base substitution A G intron_variant COAD-US 18 44470622 44470622 single base substitution A G synonymous_variant P140P 420T>C COCA-CN 18 44395368 44395368 single base substitution T C downstream_gene_variant COCA-CN 18 44395368 44395368 single base substitution T C intron_variant COCA-CN 18 44407847 44407847 single base substitution G T exon_variant COCA-CN 18 44407847 44407847 single base substitution G T intron_variant COCA-CN 18 44409713 44409713 single base substitution C T 3_prime_UTR_variant COCA-CN 18 44409713 44409713 single base substitution C T exon_variant COCA-CN 18 44409713 44409713 single base substitution C T synonymous_variant P150P 450G>A COCA-CN 18 44409713 44409713 single base substitution C T synonymous_variant P440P 1320G>A COCA-CN 18 44426699 44426699 single base substitution A G 3_prime_UTR_variant COCA-CN 18 44426699 44426699 single base substitution A G 5_prime_UTR_variant COCA-CN 18 44426699 44426699 single base substitution A G exon_variant COCA-CN 18 44426699 44426699 single base substitution A G missense_variant S278P 832T>C COCA-CN 18 44426699 44426699 single base substitution A G upstream_gene_variant COCA-CN 18 44470566 44470566 single base substitution A G downstream_gene_variant COCA-CN 18 44470566 44470566 single base substitution A G exon_variant COCA-CN 18 44470566 44470566 single base substitution A G intron_variant COCA-CN 18 44470566 44470566 single base substitution A G missense_variant V159A 476T>C COCA-CN 18 44470960 44470960 single base substitution G A downstream_gene_variant COCA-CN 18 44470960 44470960 single base substitution G A exon_variant COCA-CN 18 44470960 44470960 single base substitution G A intron_variant COCA-CN 18 44470960 44470960 single base substitution G A missense_variant R19W 55C>T COCA-CN 18 44470960 44470960 single base substitution G A missense_variant R26W 76C>T COCA-CN 18 44470960 44470960 single base substitution G A missense_variant R28W 82C>T COCA-CN 18 44470960 44470960 single base substitution G A missense_variant R56W 166C>T COCA-CN 18 44470960 44470960 single base substitution G A missense_variant R62W 184C>T EOPC-DE 18 44384947 44384947 single base substitution T C downstream_gene_variant EOPC-DE 18 44409015 44409015 single base substitution G A intron_variant EOPC-DE 18 44456958 44456958 single base substitution C G intron_variant ESAD-UK 18 44384553 44384553 single base substitution T G downstream_gene_variant ESAD-UK 18 44384605 44384605 single base substitution C T downstream_gene_variant ESAD-UK 18 44385091 44385091 single base substitution T C downstream_gene_variant ESAD-UK 18 44387462 44387462 single base substitution C T downstream_gene_variant ESAD-UK 18 44388416 44388416 single base substitution A C 3_prime_UTR_variant ESAD-UK 18 44388416 44388416 single base substitution A C downstream_gene_variant ESAD-UK 18 44390503 44390503 single base substitution C T 3_prime_UTR_variant ESAD-UK 18 44390503 44390503 single base substitution C T downstream_gene_variant ESAD-UK 18 44391245 44391245 single base substitution T G 3_prime_UTR_variant ESAD-UK 18 44391245 44391245 single base substitution T G downstream_gene_variant ESAD-UK 18 44393033 44393033 insertion of <=200bp - T intron_variant ESAD-UK 18 44395326 44395326 single base substitution G T downstream_gene_variant ESAD-UK 18 44395326 44395326 single base substitution G T intron_variant ESAD-UK 18 44396145 44396145 single base substitution C T downstream_gene_variant ESAD-UK 18 44396145 44396145 single base substitution C T intron_variant ESAD-UK 18 44397046 44397046 single base substitution G A downstream_gene_variant ESAD-UK 18 44397046 44397046 single base substitution G A intron_variant ESAD-UK 18 44399605 44399605 insertion of <=200bp - A intron_variant ESAD-UK 18 44403263 44403263 single base substitution C G downstream_gene_variant ESAD-UK 18 44403263 44403263 single base substitution C G intron_variant ESAD-UK 18 44403613 44403613 single base substitution C T downstream_gene_variant ESAD-UK 18 44403613 44403613 single base substitution C T intron_variant ESAD-UK 18 44405083 44405083 single base substitution A C downstream_gene_variant ESAD-UK 18 44405083 44405083 single base substitution A C intron_variant ESAD-UK 18 44407638 44407638 single base substitution C G downstream_gene_variant ESAD-UK 18 44407638 44407638 single base substitution C G exon_variant ESAD-UK 18 44407638 44407638 single base substitution C G intron_variant ESAD-UK 18 44408784 44408784 single base substitution C T intron_variant ESAD-UK 18 44413785 44413785 single base substitution T A downstream_gene_variant ESAD-UK 18 44413785 44413785 single base substitution T A intron_variant ESAD-UK 18 44414019 44414019 single base substitution C T downstream_gene_variant ESAD-UK 18 44414019 44414019 single base substitution C T intron_variant ESAD-UK 18 44416912 44416912 single base substitution T G intron_variant ESAD-UK 18 44417175 44417175 single base substitution T C intron_variant ESAD-UK 18 44417525 44417525 single base substitution C T intron_variant ESAD-UK 18 44417593 44417593 single base substitution C G intron_variant ESAD-UK 18 44419023 44419023 single base substitution A G downstream_gene_variant ESAD-UK 18 44419023 44419023 single base substitution A G intron_variant ESAD-UK 18 44420456 44420456 single base substitution G C downstream_gene_variant ESAD-UK 18 44420456 44420456 single base substitution G C intron_variant ESAD-UK 18 44420465 44420465 single base substitution T C downstream_gene_variant ESAD-UK 18 44420465 44420465 single base substitution T C intron_variant ESAD-UK 18 44427263 44427263 single base substitution G A intron_variant ESAD-UK 18 44427263 44427263 single base substitution G A upstream_gene_variant ESAD-UK 18 44431811 44431811 single base substitution G A intron_variant ESAD-UK 18 44438458 44438458 single base substitution A T intron_variant ESAD-UK 18 44440634 44440634 single base substitution C T intron_variant ESAD-UK 18 44443575 44443575 deletion of <=200bp A - intron_variant ESAD-UK 18 44444288 44444288 deletion of <=200bp T - intron_variant ESAD-UK 18 44444288 44444288 deletion of <=200bp T - upstream_gene_variant ESAD-UK 18 44446689 44446689 deletion of <=200bp G - intron_variant ESAD-UK 18 44446689 44446689 deletion of <=200bp G - upstream_gene_variant ESAD-UK 18 44449875 44449875 single base substitution C G intron_variant ESAD-UK 18 44449943 44449943 single base substitution A C intron_variant ESAD-UK 18 44451520 44451520 single base substitution C T intron_variant ESAD-UK 18 44453526 44453526 single base substitution C T intron_variant ESAD-UK 18 44455751 44455751 single base substitution G A intron_variant ESAD-UK 18 44456057 44456057 single base substitution C T intron_variant ESAD-UK 18 44457861 44457861 single base substitution C T intron_variant ESAD-UK 18 44460348 44460348 insertion of <=200bp - A intron_variant ESAD-UK 18 44462468 44462468 single base substitution C T intron_variant ESAD-UK 18 44463639 44463639 deletion of <=200bp A - intron_variant ESAD-UK 18 44464780 44464780 single base substitution T C intron_variant ESAD-UK 18 44465104 44465104 deletion of <=200bp A - intron_variant ESAD-UK 18 44470814 44470814 single base substitution G C downstream_gene_variant ESAD-UK 18 44470814 44470814 single base substitution G C exon_variant ESAD-UK 18 44470814 44470814 single base substitution G C intron_variant ESAD-UK 18 44470814 44470814 single base substitution G C synonymous_variant S67S 201C>G ESAD-UK 18 44470814 44470814 single base substitution G C synonymous_variant S74S 222C>G ESAD-UK 18 44470814 44470814 single base substitution G C synonymous_variant S76S 228C>G ESAD-UK 18 44471525 44471525 insertion of <=200bp - T intron_variant ESAD-UK 18 44476068 44476068 single base substitution A C intron_variant ESAD-UK 18 44477450 44477450 single base substitution T C intron_variant ESAD-UK 18 44481273 44481273 single base substitution G T downstream_gene_variant ESAD-UK 18 44481273 44481273 single base substitution G T intron_variant ESAD-UK 18 44482366 44482366 deletion of <=200bp A - downstream_gene_variant ESAD-UK 18 44482366 44482366 deletion of <=200bp A - intron_variant ESAD-UK 18 44483711 44483711 deletion of <=200bp A - downstream_gene_variant ESAD-UK 18 44483711 44483711 deletion of <=200bp A - intron_variant ESAD-UK 18 44483711 44483711 deletion of <=200bp A - upstream_gene_variant ESAD-UK 18 44484911 44484911 single base substitution C T downstream_gene_variant ESAD-UK 18 44484911 44484911 single base substitution C T intron_variant ESAD-UK 18 44484911 44484911 single base substitution C T upstream_gene_variant ESAD-UK 18 44485723 44485723 single base substitution A G downstream_gene_variant ESAD-UK 18 44485723 44485723 single base substitution A G exon_variant ESAD-UK 18 44485723 44485723 single base substitution A G intron_variant ESAD-UK 18 44485723 44485723 single base substitution A G upstream_gene_variant ESAD-UK 18 44485939 44485939 deletion of <=200bp A - downstream_gene_variant ESAD-UK 18 44485939 44485939 deletion of <=200bp A - exon_variant ESAD-UK 18 44485939 44485939 deletion of <=200bp A - intron_variant ESAD-UK 18 44485939 44485939 deletion of <=200bp A - upstream_gene_variant ESAD-UK 18 44489081 44489081 single base substitution T A intron_variant ESAD-UK 18 44489081 44489081 single base substitution T A upstream_gene_variant ESAD-UK 18 44490054 44490054 single base substitution G T intron_variant ESAD-UK 18 44490054 44490054 single base substitution G T upstream_gene_variant ESAD-UK 18 44490356 44490356 single base substitution A G intron_variant ESAD-UK 18 44490356 44490356 single base substitution A G upstream_gene_variant ESAD-UK 18 44498971 44498971 insertion of <=200bp - TATG intron_variant ESAD-UK 18 44498971 44498971 insertion of <=200bp - TATG upstream_gene_variant ESAD-UK 18 44499416 44499416 single base substitution T A intron_variant ESAD-UK 18 44499416 44499416 single base substitution T A upstream_gene_variant ESAD-UK 18 44500347 44500347 single base substitution G C upstream_gene_variant ESAD-UK 18 44500834 44500834 single base substitution T G upstream_gene_variant ESAD-UK 18 44502831 44502831 single base substitution A G upstream_gene_variant ESCA-CN 18 44424072 44424072 single base substitution G A 3_prime_UTR_variant ESCA-CN 18 44424072 44424072 single base substitution G A downstream_gene_variant ESCA-CN 18 44424072 44424072 single base substitution G A exon_variant ESCA-CN 18 44424072 44424072 single base substitution G A missense_variant A329V 986C>T ESCA-CN 18 44424072 44424072 single base substitution G A missense_variant A39V 116C>T ESCA-CN 18 44424774 44424774 single base substitution C T 3_prime_UTR_variant ESCA-CN 18 44424774 44424774 single base substitution C T downstream_gene_variant ESCA-CN 18 44424774 44424774 single base substitution C T exon_variant ESCA-CN 18 44424774 44424774 single base substitution C T missense_variant R297Q 890G>A ESCA-CN 18 44424774 44424774 single base substitution C T missense_variant R7Q 20G>A KIRC-US 18 44424802 44424803 deletion of <=200bp TC - downstream_gene_variant KIRC-US 18 44424802 44424803 deletion of <=200bp TC - exon_variant KIRC-US 18 44424802 44424803 deletion of <=200bp TC - frameshift_variant KN288 KIRC-US 18 44424802 44424803 deletion of <=200bp TC - splice_acceptor_variant KIRP-US 18 44416377 44416377 single base substitution G A 3_prime_UTR_variant KIRP-US 18 44416377 44416377 single base substitution G A exon_variant KIRP-US 18 44416377 44416377 single base substitution G A missense_variant T382I 1145C>T KIRP-US 18 44416377 44416377 single base substitution G A missense_variant T92I 275C>T LAML-KR 18 44399240 44399240 single base substitution C T intron_variant LAML-KR 18 44401052 44401052 single base substitution G A intron_variant LAML-KR 18 44449304 44449304 single base substitution G A intron_variant LAML-KR 18 44463065 44463065 single base substitution G A intron_variant LICA-CN 18 44424026 44424026 single base substitution C A 3_prime_UTR_variant LICA-CN 18 44424026 44424026 single base substitution C A downstream_gene_variant LICA-CN 18 44424026 44424026 single base substitution C A exon_variant LICA-CN 18 44424026 44424026 single base substitution C A missense_variant L344F 1032G>T LICA-CN 18 44424026 44424026 single base substitution C A missense_variant L54F 162G>T LICA-FR 18 44389719 44389719 insertion of <=200bp - AA 3_prime_UTR_variant LICA-FR 18 44389719 44389719 insertion of <=200bp - AA downstream_gene_variant LICA-FR 18 44410435 44410435 single base substitution A G intron_variant LICA-FR 18 44411562 44411562 single base substitution T C downstream_gene_variant LICA-FR 18 44411562 44411562 single base substitution T C intron_variant LICA-FR 18 44419869 44419869 single base substitution T A downstream_gene_variant LICA-FR 18 44419869 44419869 single base substitution T A intron_variant LICA-FR 18 44445119 44445119 single base substitution T C intron_variant LICA-FR 18 44445119 44445119 single base substitution T C upstream_gene_variant LICA-FR 18 44460321 44460321 single base substitution G A intron_variant LICA-FR 18 44460902 44460902 single base substitution G A intron_variant LICA-FR 18 44463507 44463507 insertion of <=200bp - A intron_variant LICA-FR 18 44463861 44463875 deletion of <=200bp TTGGAAGGCCTGAGG - intron_variant LICA-FR 18 44470924 44470924 single base substitution T C downstream_gene_variant LICA-FR 18 44470924 44470924 single base substitution T C exon_variant LICA-FR 18 44470924 44470924 single base substitution T C intron_variant LICA-FR 18 44470924 44470924 single base substitution T C missense_variant R31G 91A>G LICA-FR 18 44470924 44470924 single base substitution T C missense_variant R38G 112A>G LICA-FR 18 44470924 44470924 single base substitution T C missense_variant R40G 118A>G LICA-FR 18 44470924 44470924 single base substitution T C missense_variant R68G 202A>G LICA-FR 18 44470924 44470924 single base substitution T C missense_variant R74G 220A>G LICA-FR 18 44501913 44501913 single base substitution C A upstream_gene_variant LIHC-US 18 44408008 44408008 single base substitution T G 3_prime_UTR_variant LIHC-US 18 44408008 44408008 single base substitution T G exon_variant LIHC-US 18 44408008 44408008 single base substitution T G synonymous_variant I184I 552A>C LIHC-US 18 44408008 44408008 single base substitution T G synonymous_variant I474I 1422A>C LINC-JP 18 44386255 44386255 single base substitution C T downstream_gene_variant LINC-JP 18 44407867 44407867 single base substitution C G exon_variant LINC-JP 18 44407867 44407867 single base substitution C G intron_variant LINC-JP 18 44412329 44412329 single base substitution A T downstream_gene_variant LINC-JP 18 44412329 44412329 single base substitution A T intron_variant LINC-JP 18 44421397 44421397 single base substitution T A downstream_gene_variant LINC-JP 18 44421397 44421397 single base substitution T A intron_variant LINC-JP 18 44424116 44424116 single base substitution A T downstream_gene_variant LINC-JP 18 44424116 44424116 single base substitution A T intron_variant LINC-JP 18 44424119 44424119 single base substitution T A downstream_gene_variant LINC-JP 18 44424119 44424119 single base substitution T A intron_variant LINC-JP 18 44435269 44435269 deletion of <=200bp A - intron_variant LINC-JP 18 44441750 44441750 single base substitution T C intron_variant LINC-JP 18 44448503 44448503 single base substitution C T intron_variant LINC-JP 18 44448503 44448503 single base substitution C T upstream_gene_variant LINC-JP 18 44470786 44470786 single base substitution C T downstream_gene_variant LINC-JP 18 44470786 44470786 single base substitution C T exon_variant LINC-JP 18 44470786 44470786 single base substitution C T intron_variant LINC-JP 18 44470786 44470786 single base substitution C T missense_variant D77N 229G>A LINC-JP 18 44470786 44470786 single base substitution C T missense_variant D84N 250G>A LINC-JP 18 44470786 44470786 single base substitution C T missense_variant D86N 256G>A LINC-JP 18 44471028 44471028 single base substitution A G intron_variant LINC-JP 18 44476120 44476120 single base substitution G A intron_variant LINC-JP 18 44477017 44477017 single base substitution T C intron_variant LINC-JP 18 44497244 44497244 single base substitution C A intron_variant LINC-JP 18 44497244 44497244 single base substitution C A upstream_gene_variant LIRI-JP 18 44383725 44383725 single base substitution C T downstream_gene_variant LIRI-JP 18 44383819 44383819 single base substitution T C downstream_gene_variant LIRI-JP 18 44385148 44385148 single base substitution T A downstream_gene_variant LIRI-JP 18 44386556 44386556 single base substitution T A downstream_gene_variant LIRI-JP 18 44386643 44386643 single base substitution T A downstream_gene_variant LIRI-JP 18 44386647 44386647 single base substitution T A downstream_gene_variant LIRI-JP 18 44386999 44387014 deletion of <=200bp AATGTTTGCCTGTTTT - downstream_gene_variant LIRI-JP 18 44387752 44387752 single base substitution C T downstream_gene_variant LIRI-JP 18 44387994 44387994 single base substitution T C downstream_gene_variant LIRI-JP 18 44388079 44388079 single base substitution T C downstream_gene_variant LIRI-JP 18 44389664 44389664 single base substitution G A 3_prime_UTR_variant LIRI-JP 18 44389664 44389664 single base substitution G A downstream_gene_variant LIRI-JP 18 44391075 44391075 single base substitution C T 3_prime_UTR_variant LIRI-JP 18 44391075 44391075 single base substitution C T downstream_gene_variant LIRI-JP 18 44391837 44391837 single base substitution T C 3_prime_UTR_variant LIRI-JP 18 44391837 44391837 single base substitution T C downstream_gene_variant LIRI-JP 18 44393124 44393124 single base substitution T C intron_variant LIRI-JP 18 44398481 44398481 single base substitution T C intron_variant LIRI-JP 18 44400773 44400773 single base substitution G A intron_variant LIRI-JP 18 44401465 44401465 single base substitution G A intron_variant LIRI-JP 18 44403755 44403755 single base substitution A T downstream_gene_variant LIRI-JP 18 44403755 44403755 single base substitution A T intron_variant LIRI-JP 18 44410180 44410180 single base substitution C A intron_variant LIRI-JP 18 44410181 44410181 single base substitution T A intron_variant LIRI-JP 18 44411307 44411307 single base substitution T C downstream_gene_variant LIRI-JP 18 44411307 44411307 single base substitution T C intron_variant LIRI-JP 18 44413241 44413241 single base substitution G A downstream_gene_variant LIRI-JP 18 44413241 44413241 single base substitution G A intron_variant LIRI-JP 18 44421099 44421099 single base substitution T C downstream_gene_variant LIRI-JP 18 44421099 44421099 single base substitution T C intron_variant LIRI-JP 18 44421228 44421228 single base substitution G A downstream_gene_variant LIRI-JP 18 44421228 44421228 single base substitution G A intron_variant LIRI-JP 18 44421461 44421461 single base substitution T C downstream_gene_variant LIRI-JP 18 44421461 44421461 single base substitution T C intron_variant LIRI-JP 18 44422002 44422002 single base substitution G A downstream_gene_variant LIRI-JP 18 44422002 44422002 single base substitution G A intron_variant LIRI-JP 18 44425320 44425320 single base substitution T C downstream_gene_variant LIRI-JP 18 44425320 44425320 single base substitution T C intron_variant LIRI-JP 18 44425320 44425320 single base substitution T C upstream_gene_variant LIRI-JP 18 44426921 44426921 single base substitution A G intron_variant LIRI-JP 18 44426921 44426921 single base substitution A G upstream_gene_variant LIRI-JP 18 44427467 44427467 single base substitution C A intron_variant LIRI-JP 18 44427467 44427467 single base substitution C A upstream_gene_variant LIRI-JP 18 44427864 44427864 single base substitution T C intron_variant LIRI-JP 18 44427864 44427864 single base substitution T C upstream_gene_variant LIRI-JP 18 44430634 44430634 single base substitution T C intron_variant LIRI-JP 18 44430957 44430957 single base substitution T C intron_variant LIRI-JP 18 44433984 44433984 single base substitution C T intron_variant LIRI-JP 18 44435847 44435847 single base substitution C T intron_variant LIRI-JP 18 44436309 44436309 single base substitution T C intron_variant LIRI-JP 18 44436504 44436504 single base substitution T C intron_variant LIRI-JP 18 44438706 44438706 single base substitution A G intron_variant LIRI-JP 18 44439907 44439907 single base substitution A C intron_variant LIRI-JP 18 44441742 44441742 single base substitution G A intron_variant LIRI-JP 18 44442156 44442156 single base substitution T C intron_variant LIRI-JP 18 44445091 44445091 single base substitution T C intron_variant LIRI-JP 18 44445091 44445091 single base substitution T C upstream_gene_variant LIRI-JP 18 44446928 44446928 single base substitution C A intron_variant LIRI-JP 18 44446928 44446928 single base substitution C A upstream_gene_variant LIRI-JP 18 44451674 44451674 single base substitution T C intron_variant LIRI-JP 18 44455170 44455170 single base substitution T C intron_variant LIRI-JP 18 44456403 44456403 single base substitution C T intron_variant LIRI-JP 18 44459661 44459661 single base substitution T C intron_variant LIRI-JP 18 44463294 44463297 deletion of <=200bp CCAG - intron_variant LIRI-JP 18 44463550 44463550 single base substitution C T intron_variant LIRI-JP 18 44463619 44463619 single base substitution T C intron_variant LIRI-JP 18 44466842 44466842 single base substitution T C downstream_gene_variant LIRI-JP 18 44466842 44466842 single base substitution T C intron_variant LIRI-JP 18 44467549 44467549 single base substitution T A downstream_gene_variant LIRI-JP 18 44467549 44467549 single base substitution T A intron_variant LIRI-JP 18 44472452 44472452 single base substitution T G intron_variant LIRI-JP 18 44473096 44473105 deletion of <=200bp ACAAACCAGT - intron_variant LIRI-JP 18 44474648 44474648 single base substitution T A intron_variant LIRI-JP 18 44477252 44477252 single base substitution T C intron_variant LIRI-JP 18 44479156 44479156 single base substitution T G intron_variant LIRI-JP 18 44480653 44480653 single base substitution T C intron_variant LIRI-JP 18 44481991 44481991 single base substitution C A downstream_gene_variant LIRI-JP 18 44481991 44481991 single base substitution C A intron_variant LIRI-JP 18 44482318 44482318 single base substitution G T downstream_gene_variant LIRI-JP 18 44482318 44482318 single base substitution G T intron_variant LIRI-JP 18 44482476 44482476 single base substitution T A downstream_gene_variant LIRI-JP 18 44482476 44482476 single base substitution T A intron_variant LIRI-JP 18 44484851 44484851 single base substitution C T downstream_gene_variant LIRI-JP 18 44484851 44484851 single base substitution C T intron_variant LIRI-JP 18 44484851 44484851 single base substitution C T upstream_gene_variant LIRI-JP 18 44484934 44484934 single base substitution T C downstream_gene_variant LIRI-JP 18 44484934 44484934 single base substitution T C intron_variant LIRI-JP 18 44484934 44484934 single base substitution T C upstream_gene_variant LIRI-JP 18 44488840 44488840 single base substitution C T intron_variant LIRI-JP 18 44488840 44488840 single base substitution C T upstream_gene_variant LIRI-JP 18 44489995 44489995 single base substitution T A intron_variant LIRI-JP 18 44489995 44489995 single base substitution T A upstream_gene_variant LIRI-JP 18 44490075 44490075 single base substitution C T intron_variant LIRI-JP 18 44490075 44490075 single base substitution C T upstream_gene_variant LIRI-JP 18 44490158 44490158 single base substitution A C intron_variant LIRI-JP 18 44490158 44490158 single base substitution A C upstream_gene_variant LIRI-JP 18 44490227 44490227 single base substitution T C intron_variant LIRI-JP 18 44490227 44490227 single base substitution T C upstream_gene_variant LIRI-JP 18 44490676 44490676 single base substitution A C intron_variant LIRI-JP 18 44490676 44490676 single base substitution A C upstream_gene_variant LIRI-JP 18 44490879 44490879 single base substitution C T intron_variant LIRI-JP 18 44490879 44490879 single base substitution C T upstream_gene_variant LIRI-JP 18 44493942 44493942 single base substitution A T intron_variant LIRI-JP 18 44494495 44494495 single base substitution C T intron_variant LIRI-JP 18 44495376 44495376 single base substitution C T intron_variant LIRI-JP 18 44495480 44495480 single base substitution C T intron_variant LIRI-JP 18 44498033 44498033 single base substitution G A intron_variant LIRI-JP 18 44498033 44498033 single base substitution G A upstream_gene_variant LIRI-JP 18 44499988 44499988 single base substitution A C intron_variant LIRI-JP 18 44499988 44499988 single base substitution A C upstream_gene_variant LIRI-JP 18 44500750 44500750 deletion of <=200bp A - upstream_gene_variant LIRI-JP 18 44502085 44502085 single base substitution A G upstream_gene_variant LIRI-JP 18 44503938 44503938 single base substitution G A upstream_gene_variant LIRI-JP 18 44503964 44503964 single base substitution A G upstream_gene_variant LUSC-KR 18 44390505 44390505 single base substitution G A 3_prime_UTR_variant LUSC-KR 18 44390505 44390505 single base substitution G A downstream_gene_variant LUSC-KR 18 44422920 44422920 single base substitution C T downstream_gene_variant LUSC-KR 18 44422920 44422920 single base substitution C T intron_variant LUSC-KR 18 44424933 44424933 single base substitution C A downstream_gene_variant LUSC-KR 18 44424933 44424933 single base substitution C A exon_variant LUSC-KR 18 44424933 44424933 single base substitution C A intron_variant LUSC-KR 18 44429373 44429373 single base substitution T C intron_variant LUSC-KR 18 44429373 44429373 single base substitution T C upstream_gene_variant LUSC-KR 18 44432375 44432375 single base substitution T G intron_variant LUSC-KR 18 44440221 44440221 single base substitution C A intron_variant LUSC-KR 18 44441189 44441189 single base substitution G C intron_variant LUSC-KR 18 44441585 44441585 single base substitution G C intron_variant LUSC-KR 18 44442710 44442710 single base substitution C A intron_variant LUSC-KR 18 44442958 44442958 single base substitution C A intron_variant LUSC-KR 18 44443441 44443441 single base substitution T C intron_variant LUSC-KR 18 44447981 44447981 single base substitution C T intron_variant LUSC-KR 18 44447981 44447981 single base substitution C T upstream_gene_variant LUSC-KR 18 44455698 44455698 single base substitution C A intron_variant LUSC-KR 18 44459158 44459158 single base substitution G A intron_variant LUSC-KR 18 44463145 44463145 single base substitution C T intron_variant LUSC-KR 18 44466098 44466098 single base substitution T C downstream_gene_variant LUSC-KR 18 44466098 44466098 single base substitution T C intron_variant LUSC-KR 18 44467238 44467238 single base substitution T A downstream_gene_variant LUSC-KR 18 44467238 44467238 single base substitution T A intron_variant LUSC-KR 18 44472876 44472876 single base substitution T C intron_variant LUSC-KR 18 44474743 44474743 single base substitution A T intron_variant LUSC-KR 18 44474771 44474771 single base substitution T C intron_variant LUSC-KR 18 44477489 44477489 single base substitution T A intron_variant LUSC-KR 18 44481710 44481710 single base substitution C G downstream_gene_variant LUSC-KR 18 44481710 44481710 single base substitution C G intron_variant LUSC-KR 18 44492890 44492890 single base substitution C T intron_variant LUSC-KR 18 44492890 44492890 single base substitution C T upstream_gene_variant LUSC-KR 18 44495086 44495086 single base substitution C G intron_variant LUSC-KR 18 44496289 44496289 single base substitution T C intron_variant LUSC-KR 18 44497292 44497292 single base substitution T A 5_prime_UTR_variant LUSC-KR 18 44497292 44497292 single base substitution T A exon_variant LUSC-KR 18 44497292 44497292 single base substitution T A intron_variant LUSC-KR 18 44497292 44497292 single base substitution T A missense_variant E6V 17A>T LUSC-KR 18 44497292 44497292 single base substitution T A upstream_gene_variant LUSC-KR 18 44498972 44498972 single base substitution G A intron_variant LUSC-KR 18 44498972 44498972 single base substitution G A upstream_gene_variant LUSC-KR 18 44499920 44499920 single base substitution A G intron_variant LUSC-KR 18 44499920 44499920 single base substitution A G upstream_gene_variant LUSC-KR 18 44503074 44503074 single base substitution C T upstream_gene_variant LUSC-US 18 44416462 44416462 single base substitution T A 3_prime_UTR_variant LUSC-US 18 44416462 44416462 single base substitution T A exon_variant LUSC-US 18 44416462 44416462 single base substitution T A missense_variant T354S 1060A>T LUSC-US 18 44416462 44416462 single base substitution T A missense_variant T64S 190A>T LUSC-US 18 44470609 44470609 single base substitution C T downstream_gene_variant LUSC-US 18 44470609 44470609 single base substitution C T exon_variant LUSC-US 18 44470609 44470609 single base substitution C T intron_variant LUSC-US 18 44470609 44470609 single base substitution C T missense_variant D145N 433G>A LUSC-US 18 44470757 44470757 single base substitution G A downstream_gene_variant LUSC-US 18 44470757 44470757 single base substitution G A exon_variant LUSC-US 18 44470757 44470757 single base substitution G A intron_variant LUSC-US 18 44470757 44470757 single base substitution G A synonymous_variant D86D 258C>T LUSC-US 18 44470757 44470757 single base substitution G A synonymous_variant D95D 285C>T MALY-DE 18 44386313 44386323 deletion of <=200bp TTACTTTTTTT - downstream_gene_variant MALY-DE 18 44387072 44387072 single base substitution G T downstream_gene_variant MALY-DE 18 44394296 44394296 single base substitution C G downstream_gene_variant MALY-DE 18 44394296 44394296 single base substitution C G intron_variant MALY-DE 18 44396947 44396947 single base substitution G A downstream_gene_variant MALY-DE 18 44396947 44396947 single base substitution G A intron_variant MALY-DE 18 44401497 44401497 single base substitution C T intron_variant MALY-DE 18 44404385 44404385 single base substitution A G downstream_gene_variant MALY-DE 18 44404385 44404385 single base substitution A G intron_variant MALY-DE 18 44435680 44435680 single base substitution T G intron_variant MALY-DE 18 44440203 44440203 single base substitution G C intron_variant MALY-DE 18 44443232 44443232 single base substitution C T intron_variant MALY-DE 18 44460348 44460348 insertion of <=200bp - A intron_variant MALY-DE 18 44464007 44464010 deletion of <=200bp CTAA - intron_variant MALY-DE 18 44465122 44465122 single base substitution A C intron_variant MALY-DE 18 44476257 44476257 single base substitution A G intron_variant MALY-DE 18 44477965 44477965 single base substitution G C intron_variant MALY-DE 18 44483000 44483000 single base substitution T C downstream_gene_variant MALY-DE 18 44483000 44483000 single base substitution T C intron_variant MALY-DE 18 44486738 44486738 single base substitution G T downstream_gene_variant MALY-DE 18 44486738 44486738 single base substitution G T intron_variant MALY-DE 18 44486738 44486738 single base substitution G T upstream_gene_variant MALY-DE 18 44488179 44488179 single base substitution G A intron_variant MALY-DE 18 44488179 44488179 single base substitution G A upstream_gene_variant MALY-DE 18 44492644 44492644 insertion of <=200bp - T intron_variant MALY-DE 18 44492644 44492644 insertion of <=200bp - T upstream_gene_variant MALY-DE 18 44495770 44495770 single base substitution A G intron_variant MALY-DE 18 44497819 44497819 single base substitution G A intron_variant MALY-DE 18 44497819 44497819 single base substitution G A upstream_gene_variant MALY-DE 18 44501535 44501535 single base substitution C T upstream_gene_variant MELA-AU 18 44383476 44383476 single base substitution C T downstream_gene_variant MELA-AU 18 44383745 44383745 single base substitution G A downstream_gene_variant MELA-AU 18 44384253 44384253 single base substitution G A downstream_gene_variant MELA-AU 18 44384919 44384919 single base substitution G C downstream_gene_variant MELA-AU 18 44385181 44385181 single base substitution G A downstream_gene_variant MELA-AU 18 44385305 44385305 single base substitution G A downstream_gene_variant MELA-AU 18 44385550 44385550 single base substitution G A downstream_gene_variant MELA-AU 18 44385679 44385679 single base substitution G A downstream_gene_variant MELA-AU 18 44385684 44385684 single base substitution G A downstream_gene_variant MELA-AU 18 44385780 44385780 single base substitution G A downstream_gene_variant MELA-AU 18 44386203 44386203 single base substitution G A downstream_gene_variant MELA-AU 18 44386441 44386441 single base substitution C T downstream_gene_variant MELA-AU 18 44386455 44386455 single base substitution G A downstream_gene_variant MELA-AU 18 44386589 44386589 single base substitution G A downstream_gene_variant MELA-AU 18 44387111 44387111 single base substitution G A downstream_gene_variant MELA-AU 18 44387268 44387268 single base substitution G A downstream_gene_variant MELA-AU 18 44388495 44388495 single base substitution C G 3_prime_UTR_variant MELA-AU 18 44388495 44388495 single base substitution C G downstream_gene_variant MELA-AU 18 44388533 44388533 single base substitution A G 3_prime_UTR_variant MELA-AU 18 44388533 44388533 single base substitution A G downstream_gene_variant MELA-AU 18 44388776 44388776 single base substitution G A 3_prime_UTR_variant MELA-AU 18 44388776 44388776 single base substitution G A downstream_gene_variant MELA-AU 18 44388793 44388793 single base substitution T A 3_prime_UTR_variant MELA-AU 18 44388793 44388793 single base substitution T A downstream_gene_variant MELA-AU 18 44389479 44389479 single base substitution G A 3_prime_UTR_variant MELA-AU 18 44389479 44389479 single base substitution G A downstream_gene_variant MELA-AU 18 44391623 44391623 single base substitution T C 3_prime_UTR_variant MELA-AU 18 44391623 44391623 single base substitution T C downstream_gene_variant MELA-AU 18 44392041 44392041 single base substitution G A 3_prime_UTR_variant MELA-AU 18 44392041 44392041 single base substitution G A downstream_gene_variant MELA-AU 18 44392148 44392148 single base substitution C T 3_prime_UTR_variant MELA-AU 18 44392148 44392148 single base substitution C T downstream_gene_variant MELA-AU 18 44392499 44392499 single base substitution G A 3_prime_UTR_variant MELA-AU 18 44392499 44392499 single base substitution G A missense_variant S588F 1763C>T MELA-AU 18 44393255 44393255 single base substitution C T downstream_gene_variant MELA-AU 18 44393255 44393255 single base substitution C T intron_variant MELA-AU 18 44393843 44393843 single base substitution C T downstream_gene_variant MELA-AU 18 44393843 44393843 single base substitution C T intron_variant MELA-AU 18 44394006 44394006 single base substitution A G downstream_gene_variant MELA-AU 18 44394006 44394006 single base substitution A G intron_variant MELA-AU 18 44395296 44395296 single base substitution G A 3_prime_UTR_variant MELA-AU 18 44395296 44395296 single base substitution G A downstream_gene_variant MELA-AU 18 44395296 44395296 single base substitution G A synonymous_variant S555S 1665C>T MELA-AU 18 44395649 44395649 single base substitution G A downstream_gene_variant MELA-AU 18 44395649 44395649 single base substitution G A intron_variant MELA-AU 18 44396385 44396385 single base substitution G A downstream_gene_variant MELA-AU 18 44396385 44396385 single base substitution G A intron_variant MELA-AU 18 44396417 44396417 single base substitution G A downstream_gene_variant MELA-AU 18 44396417 44396417 single base substitution G A intron_variant MELA-AU 18 44396808 44396808 single base substitution A T downstream_gene_variant MELA-AU 18 44396808 44396808 single base substitution A T intron_variant MELA-AU 18 44397261 44397261 single base substitution A C downstream_gene_variant MELA-AU 18 44397261 44397261 single base substitution A C intron_variant MELA-AU 18 44397782 44397782 single base substitution G A downstream_gene_variant MELA-AU 18 44397782 44397782 single base substitution G A intron_variant MELA-AU 18 44399131 44399131 single base substitution G A intron_variant MELA-AU 18 44399610 44399610 single base substitution A T intron_variant MELA-AU 18 44399808 44399808 single base substitution G A intron_variant MELA-AU 18 44399967 44399967 single base substitution G A intron_variant MELA-AU 18 44400125 44400125 single base substitution T A intron_variant MELA-AU 18 44400127 44400127 single base substitution A G intron_variant MELA-AU 18 44400398 44400398 single base substitution G A intron_variant MELA-AU 18 44400481 44400481 single base substitution G A intron_variant MELA-AU 18 44401053 44401053 single base substitution G A intron_variant MELA-AU 18 44402403 44402403 single base substitution G A downstream_gene_variant MELA-AU 18 44402403 44402403 single base substitution G A intron_variant MELA-AU 18 44402534 44402534 single base substitution G A downstream_gene_variant MELA-AU 18 44402534 44402534 single base substitution G A intron_variant MELA-AU 18 44403122 44403123 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 18 44403122 44403123 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 44403749 44403749 single base substitution G A downstream_gene_variant MELA-AU 18 44403749 44403749 single base substitution G A intron_variant MELA-AU 18 44404543 44404543 single base substitution G A downstream_gene_variant MELA-AU 18 44404543 44404543 single base substitution G A intron_variant MELA-AU 18 44405198 44405198 single base substitution T G downstream_gene_variant MELA-AU 18 44405198 44405198 single base substitution T G intron_variant MELA-AU 18 44405913 44405913 single base substitution G A downstream_gene_variant MELA-AU 18 44405913 44405913 single base substitution G A intron_variant MELA-AU 18 44406323 44406323 single base substitution G A downstream_gene_variant MELA-AU 18 44406323 44406323 single base substitution G A intron_variant MELA-AU 18 44406952 44406952 single base substitution G A downstream_gene_variant MELA-AU 18 44406952 44406952 single base substitution G A intron_variant MELA-AU 18 44407186 44407186 single base substitution G C downstream_gene_variant MELA-AU 18 44407186 44407186 single base substitution G C intron_variant MELA-AU 18 44407190 44407190 single base substitution A G downstream_gene_variant MELA-AU 18 44407190 44407190 single base substitution A G intron_variant MELA-AU 18 44407230 44407230 single base substitution G A downstream_gene_variant MELA-AU 18 44407230 44407230 single base substitution G A intron_variant MELA-AU 18 44407373 44407373 single base substitution G A downstream_gene_variant MELA-AU 18 44407373 44407373 single base substitution G A exon_variant MELA-AU 18 44407373 44407373 single base substitution G A intron_variant MELA-AU 18 44407378 44407378 single base substitution G A downstream_gene_variant MELA-AU 18 44407378 44407378 single base substitution G A exon_variant MELA-AU 18 44407378 44407378 single base substitution G A intron_variant MELA-AU 18 44408723 44408723 single base substitution A G intron_variant MELA-AU 18 44409323 44409323 single base substitution G A intron_variant MELA-AU 18 44409388 44409388 single base substitution G A intron_variant MELA-AU 18 44409545 44409545 single base substitution G A intron_variant MELA-AU 18 44410462 44410462 single base substitution G A intron_variant MELA-AU 18 44411434 44411434 single base substitution G A downstream_gene_variant MELA-AU 18 44411434 44411434 single base substitution G A intron_variant MELA-AU 18 44412574 44412575 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 18 44412574 44412575 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 44412575 44412575 single base substitution C T downstream_gene_variant MELA-AU 18 44412575 44412575 single base substitution C T intron_variant MELA-AU 18 44412750 44412750 single base substitution G A downstream_gene_variant MELA-AU 18 44412750 44412750 single base substitution G A intron_variant MELA-AU 18 44413423 44413423 single base substitution G A downstream_gene_variant MELA-AU 18 44413423 44413423 single base substitution G A intron_variant MELA-AU 18 44414189 44414189 single base substitution C T downstream_gene_variant MELA-AU 18 44414189 44414189 single base substitution C T intron_variant MELA-AU 18 44414848 44414848 single base substitution G A downstream_gene_variant MELA-AU 18 44414848 44414848 single base substitution G A intron_variant MELA-AU 18 44414945 44414945 single base substitution A G downstream_gene_variant MELA-AU 18 44414945 44414945 single base substitution A G intron_variant MELA-AU 18 44415533 44415533 single base substitution G A downstream_gene_variant MELA-AU 18 44415533 44415533 single base substitution G A intron_variant MELA-AU 18 44416501 44416501 single base substitution G T intron_variant MELA-AU 18 44417048 44417048 single base substitution G A intron_variant MELA-AU 18 44418047 44418047 single base substitution G A intron_variant MELA-AU 18 44418456 44418457 multiple base substitution (>=2bp and <=200bp) CT TC intron_variant MELA-AU 18 44419089 44419089 single base substitution C T downstream_gene_variant MELA-AU 18 44419089 44419089 single base substitution C T intron_variant MELA-AU 18 44419587 44419588 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 18 44419587 44419588 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 44420016 44420016 single base substitution T A downstream_gene_variant MELA-AU 18 44420016 44420016 single base substitution T A intron_variant MELA-AU 18 44420075 44420075 single base substitution G A downstream_gene_variant MELA-AU 18 44420075 44420075 single base substitution G A intron_variant MELA-AU 18 44420541 44420541 single base substitution G A downstream_gene_variant MELA-AU 18 44420541 44420541 single base substitution G A intron_variant MELA-AU 18 44420552 44420552 single base substitution G A downstream_gene_variant MELA-AU 18 44420552 44420552 single base substitution G A intron_variant MELA-AU 18 44421835 44421835 single base substitution G A downstream_gene_variant MELA-AU 18 44421835 44421835 single base substitution G A intron_variant MELA-AU 18 44421863 44421863 single base substitution G A downstream_gene_variant MELA-AU 18 44421863 44421863 single base substitution G A intron_variant MELA-AU 18 44422178 44422179 multiple base substitution (>=2bp and <=200bp) GA AT downstream_gene_variant MELA-AU 18 44422178 44422179 multiple base substitution (>=2bp and <=200bp) GA AT intron_variant MELA-AU 18 44422670 44422670 single base substitution G A downstream_gene_variant MELA-AU 18 44422670 44422670 single base substitution G A intron_variant MELA-AU 18 44424036 44424036 single base substitution C T 3_prime_UTR_variant MELA-AU 18 44424036 44424036 single base substitution C T downstream_gene_variant MELA-AU 18 44424036 44424036 single base substitution C T exon_variant MELA-AU 18 44424036 44424036 single base substitution C T missense_variant R341Q 1022G>A MELA-AU 18 44424036 44424036 single base substitution C T missense_variant R51Q 152G>A MELA-AU 18 44424117 44424117 single base substitution T A downstream_gene_variant MELA-AU 18 44424117 44424117 single base substitution T A intron_variant MELA-AU 18 44424816 44424816 single base substitution A C downstream_gene_variant MELA-AU 18 44424816 44424816 single base substitution A C exon_variant MELA-AU 18 44424816 44424816 single base substitution A C intron_variant MELA-AU 18 44425283 44425283 single base substitution C T downstream_gene_variant MELA-AU 18 44425283 44425283 single base substitution C T intron_variant MELA-AU 18 44425283 44425283 single base substitution C T upstream_gene_variant MELA-AU 18 44425299 44425299 single base substitution G A downstream_gene_variant MELA-AU 18 44425299 44425299 single base substitution G A intron_variant MELA-AU 18 44425299 44425299 single base substitution G A upstream_gene_variant MELA-AU 18 44426134 44426134 single base substitution G A downstream_gene_variant MELA-AU 18 44426134 44426134 single base substitution G A intron_variant MELA-AU 18 44426134 44426134 single base substitution G A upstream_gene_variant MELA-AU 18 44426751 44426751 deletion of <=200bp G - 3_prime_UTR_variant MELA-AU 18 44426751 44426751 deletion of <=200bp G - 5_prime_UTR_variant MELA-AU 18 44426751 44426751 deletion of <=200bp G - exon_variant MELA-AU 18 44426751 44426751 deletion of <=200bp G - frameshift_variant P260 MELA-AU 18 44426751 44426751 deletion of <=200bp G - upstream_gene_variant MELA-AU 18 44426756 44426756 single base substitution G A 3_prime_UTR_variant MELA-AU 18 44426756 44426756 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 18 44426756 44426756 single base substitution G A exon_variant MELA-AU 18 44426756 44426756 single base substitution G A missense_variant R259C 775C>T MELA-AU 18 44426756 44426756 single base substitution G A upstream_gene_variant MELA-AU 18 44426805 44426805 single base substitution C T splice_acceptor_variant MELA-AU 18 44426805 44426805 single base substitution C T upstream_gene_variant MELA-AU 18 44427242 44427242 single base substitution G A intron_variant MELA-AU 18 44427242 44427242 single base substitution G A upstream_gene_variant MELA-AU 18 44427309 44427309 single base substitution G A intron_variant MELA-AU 18 44427309 44427309 single base substitution G A upstream_gene_variant MELA-AU 18 44427714 44427715 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 44427714 44427715 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 18 44428678 44428678 single base substitution G A intron_variant MELA-AU 18 44428678 44428678 single base substitution G A upstream_gene_variant MELA-AU 18 44428825 44428825 single base substitution A T intron_variant MELA-AU 18 44428825 44428825 single base substitution A T upstream_gene_variant MELA-AU 18 44429074 44429074 single base substitution G A intron_variant MELA-AU 18 44429074 44429074 single base substitution G A upstream_gene_variant MELA-AU 18 44429353 44429353 single base substitution G A intron_variant MELA-AU 18 44429353 44429353 single base substitution G A upstream_gene_variant MELA-AU 18 44429626 44429626 single base substitution C T intron_variant MELA-AU 18 44429626 44429626 single base substitution C T upstream_gene_variant MELA-AU 18 44430744 44430744 single base substitution G A intron_variant MELA-AU 18 44430870 44430870 single base substitution G A intron_variant MELA-AU 18 44431024 44431024 single base substitution G A intron_variant MELA-AU 18 44431441 44431441 single base substitution G A intron_variant MELA-AU 18 44433775 44433775 single base substitution G A intron_variant MELA-AU 18 44433845 44433846 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 44434000 44434001 multiple base substitution (>=2bp and <=200bp) CT TA intron_variant MELA-AU 18 44434712 44434712 single base substitution G A intron_variant MELA-AU 18 44435657 44435657 single base substitution G A intron_variant MELA-AU 18 44435698 44435698 single base substitution T A intron_variant MELA-AU 18 44436354 44436354 single base substitution G A intron_variant MELA-AU 18 44436456 44436456 single base substitution C T intron_variant MELA-AU 18 44436955 44436955 single base substitution G A intron_variant MELA-AU 18 44437993 44437993 single base substitution G A intron_variant MELA-AU 18 44439368 44439368 single base substitution G A intron_variant MELA-AU 18 44439378 44439378 single base substitution G C intron_variant MELA-AU 18 44439761 44439762 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 44440537 44440537 single base substitution A G intron_variant MELA-AU 18 44440724 44440724 single base substitution G A intron_variant MELA-AU 18 44440930 44440930 single base substitution G A intron_variant MELA-AU 18 44441189 44441189 single base substitution G T intron_variant MELA-AU 18 44441301 44441301 single base substitution G A intron_variant MELA-AU 18 44441942 44441942 single base substitution G A intron_variant MELA-AU 18 44442416 44442416 single base substitution G A intron_variant MELA-AU 18 44442794 44442794 single base substitution G T intron_variant MELA-AU 18 44443960 44443960 single base substitution G A intron_variant MELA-AU 18 44444503 44444503 single base substitution G T intron_variant MELA-AU 18 44444503 44444503 single base substitution G T upstream_gene_variant MELA-AU 18 44444846 44444846 single base substitution G A intron_variant MELA-AU 18 44444846 44444846 single base substitution G A upstream_gene_variant MELA-AU 18 44445341 44445341 single base substitution A G intron_variant MELA-AU 18 44445341 44445341 single base substitution A G upstream_gene_variant MELA-AU 18 44445366 44445366 single base substitution G A intron_variant MELA-AU 18 44445366 44445366 single base substitution G A upstream_gene_variant MELA-AU 18 44445744 44445744 single base substitution G A intron_variant MELA-AU 18 44445744 44445744 single base substitution G A upstream_gene_variant MELA-AU 18 44445753 44445753 single base substitution C T intron_variant MELA-AU 18 44445753 44445753 single base substitution C T upstream_gene_variant MELA-AU 18 44445814 44445814 single base substitution A G intron_variant MELA-AU 18 44445814 44445814 single base substitution A G upstream_gene_variant MELA-AU 18 44446112 44446112 single base substitution A C intron_variant MELA-AU 18 44446112 44446112 single base substitution A C upstream_gene_variant MELA-AU 18 44448840 44448840 single base substitution G A intron_variant MELA-AU 18 44448840 44448840 single base substitution G A upstream_gene_variant MELA-AU 18 44448871 44448871 single base substitution G A intron_variant MELA-AU 18 44448871 44448871 single base substitution G A upstream_gene_variant MELA-AU 18 44450230 44450230 single base substitution G A intron_variant MELA-AU 18 44450641 44450641 single base substitution G A intron_variant MELA-AU 18 44451026 44451026 single base substitution G A intron_variant MELA-AU 18 44451243 44451243 single base substitution G A intron_variant MELA-AU 18 44451890 44451890 single base substitution G A intron_variant MELA-AU 18 44451996 44451996 single base substitution G A intron_variant MELA-AU 18 44452120 44452120 single base substitution G A intron_variant MELA-AU 18 44452320 44452320 single base substitution T C intron_variant MELA-AU 18 44452844 44452844 single base substitution G A intron_variant MELA-AU 18 44453030 44453030 single base substitution G A intron_variant MELA-AU 18 44453558 44453558 single base substitution G A intron_variant MELA-AU 18 44454249 44454249 single base substitution G A intron_variant MELA-AU 18 44454531 44454531 single base substitution G A intron_variant MELA-AU 18 44454797 44454797 single base substitution G A intron_variant MELA-AU 18 44454882 44454882 single base substitution C T intron_variant MELA-AU 18 44455084 44455084 single base substitution A G intron_variant MELA-AU 18 44455760 44455760 single base substitution G A intron_variant MELA-AU 18 44455813 44455813 single base substitution G A intron_variant MELA-AU 18 44456647 44456647 single base substitution G A intron_variant MELA-AU 18 44456808 44456808 single base substitution T C intron_variant MELA-AU 18 44456980 44456980 single base substitution G A intron_variant MELA-AU 18 44456981 44456981 single base substitution G A intron_variant MELA-AU 18 44457323 44457323 single base substitution C T intron_variant MELA-AU 18 44457324 44457324 single base substitution G A intron_variant MELA-AU 18 44457487 44457487 single base substitution C T intron_variant MELA-AU 18 44458219 44458219 single base substitution G A intron_variant MELA-AU 18 44458305 44458305 single base substitution C T intron_variant MELA-AU 18 44458454 44458454 single base substitution A G intron_variant MELA-AU 18 44458758 44458758 single base substitution G A intron_variant MELA-AU 18 44459448 44459448 single base substitution G A intron_variant MELA-AU 18 44459962 44459962 single base substitution G A intron_variant MELA-AU 18 44460496 44460496 single base substitution G A intron_variant MELA-AU 18 44461028 44461028 single base substitution C T intron_variant MELA-AU 18 44461065 44461065 single base substitution C T intron_variant MELA-AU 18 44461870 44461870 single base substitution G A intron_variant MELA-AU 18 44462067 44462067 single base substitution G A intron_variant MELA-AU 18 44462353 44462353 single base substitution G A intron_variant MELA-AU 18 44462876 44462876 single base substitution G A intron_variant MELA-AU 18 44462963 44462963 single base substitution G A intron_variant MELA-AU 18 44462987 44462987 single base substitution G A intron_variant MELA-AU 18 44463726 44463726 single base substitution G A intron_variant MELA-AU 18 44464338 44464338 single base substitution C T intron_variant MELA-AU 18 44464954 44464954 single base substitution G A intron_variant MELA-AU 18 44464965 44464965 single base substitution G A intron_variant MELA-AU 18 44465283 44465283 single base substitution G A intron_variant MELA-AU 18 44466034 44466034 single base substitution G A downstream_gene_variant MELA-AU 18 44466034 44466034 single base substitution G A intron_variant MELA-AU 18 44466230 44466230 single base substitution T A downstream_gene_variant MELA-AU 18 44466230 44466230 single base substitution T A intron_variant MELA-AU 18 44466622 44466622 single base substitution G A downstream_gene_variant MELA-AU 18 44466622 44466622 single base substitution G A intron_variant MELA-AU 18 44467797 44467797 single base substitution A T downstream_gene_variant MELA-AU 18 44467797 44467797 single base substitution A T intron_variant MELA-AU 18 44468050 44468050 single base substitution G A downstream_gene_variant MELA-AU 18 44468050 44468050 single base substitution G A intron_variant MELA-AU 18 44468288 44468288 single base substitution A T downstream_gene_variant MELA-AU 18 44468288 44468288 single base substitution A T intron_variant MELA-AU 18 44468456 44468456 single base substitution A C downstream_gene_variant MELA-AU 18 44468456 44468456 single base substitution A C intron_variant MELA-AU 18 44469561 44469561 single base substitution G T downstream_gene_variant MELA-AU 18 44469561 44469561 single base substitution G T intron_variant MELA-AU 18 44470360 44470360 single base substitution G A downstream_gene_variant MELA-AU 18 44470360 44470360 single base substitution G A intron_variant MELA-AU 18 44470931 44470931 single base substitution G A downstream_gene_variant MELA-AU 18 44470931 44470931 single base substitution G A exon_variant MELA-AU 18 44470931 44470931 single base substitution G A intron_variant MELA-AU 18 44470931 44470931 single base substitution G A synonymous_variant L28L 84C>T MELA-AU 18 44470931 44470931 single base substitution G A synonymous_variant L35L 105C>T MELA-AU 18 44470931 44470931 single base substitution G A synonymous_variant L37L 111C>T MELA-AU 18 44470931 44470931 single base substitution G A synonymous_variant L65L 195C>T MELA-AU 18 44470931 44470931 single base substitution G A synonymous_variant L71L 213C>T MELA-AU 18 44471347 44471347 single base substitution G A intron_variant MELA-AU 18 44472911 44472911 single base substitution A C intron_variant MELA-AU 18 44473365 44473365 single base substitution T C intron_variant MELA-AU 18 44473562 44473562 single base substitution G A intron_variant MELA-AU 18 44473983 44473983 single base substitution G A intron_variant MELA-AU 18 44474297 44474297 single base substitution T C intron_variant MELA-AU 18 44474684 44474684 single base substitution G A intron_variant MELA-AU 18 44475241 44475241 single base substitution C T intron_variant MELA-AU 18 44475356 44475356 single base substitution G A intron_variant MELA-AU 18 44475379 44475379 single base substitution A G intron_variant MELA-AU 18 44475410 44475410 single base substitution G A intron_variant MELA-AU 18 44475898 44475898 single base substitution G A intron_variant MELA-AU 18 44475992 44475992 single base substitution G A intron_variant MELA-AU 18 44476211 44476211 single base substitution G A intron_variant MELA-AU 18 44476905 44476906 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 44476929 44476929 single base substitution G A intron_variant MELA-AU 18 44477001 44477001 single base substitution G A intron_variant MELA-AU 18 44477029 44477029 single base substitution G T intron_variant MELA-AU 18 44477066 44477066 single base substitution G A intron_variant MELA-AU 18 44477130 44477130 single base substitution T A intron_variant MELA-AU 18 44477968 44477968 single base substitution G A intron_variant MELA-AU 18 44478302 44478302 single base substitution G A intron_variant MELA-AU 18 44478575 44478575 deletion of <=200bp A - intron_variant MELA-AU 18 44479080 44479080 single base substitution G A intron_variant MELA-AU 18 44479174 44479174 single base substitution A G intron_variant MELA-AU 18 44479186 44479186 single base substitution G T intron_variant MELA-AU 18 44479305 44479305 single base substitution G T intron_variant MELA-AU 18 44480120 44480120 single base substitution G A intron_variant MELA-AU 18 44480416 44480416 single base substitution G A intron_variant MELA-AU 18 44480799 44480799 single base substitution C T downstream_gene_variant MELA-AU 18 44480799 44480799 single base substitution C T intron_variant MELA-AU 18 44480856 44480856 single base substitution G A downstream_gene_variant MELA-AU 18 44480856 44480856 single base substitution G A intron_variant MELA-AU 18 44481160 44481160 single base substitution C T downstream_gene_variant MELA-AU 18 44481160 44481160 single base substitution C T intron_variant MELA-AU 18 44481661 44481661 single base substitution G A downstream_gene_variant MELA-AU 18 44481661 44481661 single base substitution G A intron_variant MELA-AU 18 44482710 44482710 single base substitution A C downstream_gene_variant MELA-AU 18 44482710 44482710 single base substitution A C intron_variant MELA-AU 18 44482712 44482712 single base substitution T C downstream_gene_variant MELA-AU 18 44482712 44482712 single base substitution T C intron_variant MELA-AU 18 44483039 44483039 single base substitution G A downstream_gene_variant MELA-AU 18 44483039 44483039 single base substitution G A intron_variant MELA-AU 18 44483219 44483219 single base substitution G A downstream_gene_variant MELA-AU 18 44483219 44483219 single base substitution G A intron_variant MELA-AU 18 44483671 44483671 single base substitution G A downstream_gene_variant MELA-AU 18 44483671 44483671 single base substitution G A intron_variant MELA-AU 18 44483671 44483671 single base substitution G A upstream_gene_variant MELA-AU 18 44483715 44483715 single base substitution A G downstream_gene_variant MELA-AU 18 44483715 44483715 single base substitution A G intron_variant MELA-AU 18 44483715 44483715 single base substitution A G upstream_gene_variant MELA-AU 18 44484077 44484077 single base substitution G A 5_prime_UTR_variant MELA-AU 18 44484077 44484077 single base substitution G A downstream_gene_variant MELA-AU 18 44484077 44484077 single base substitution G A intron_variant MELA-AU 18 44484077 44484077 single base substitution G A upstream_gene_variant MELA-AU 18 44484373 44484373 single base substitution G A downstream_gene_variant MELA-AU 18 44484373 44484373 single base substitution G A intron_variant MELA-AU 18 44484373 44484373 single base substitution G A upstream_gene_variant MELA-AU 18 44484437 44484437 single base substitution G A downstream_gene_variant MELA-AU 18 44484437 44484437 single base substitution G A intron_variant MELA-AU 18 44484437 44484437 single base substitution G A upstream_gene_variant MELA-AU 18 44484552 44484552 single base substitution A C downstream_gene_variant MELA-AU 18 44484552 44484552 single base substitution A C intron_variant MELA-AU 18 44484552 44484552 single base substitution A C upstream_gene_variant MELA-AU 18 44484912 44484912 single base substitution G A downstream_gene_variant MELA-AU 18 44484912 44484912 single base substitution G A intron_variant MELA-AU 18 44484912 44484912 single base substitution G A upstream_gene_variant MELA-AU 18 44484940 44484940 single base substitution C G downstream_gene_variant MELA-AU 18 44484940 44484940 single base substitution C G intron_variant MELA-AU 18 44484940 44484940 single base substitution C G upstream_gene_variant MELA-AU 18 44485080 44485080 single base substitution C T downstream_gene_variant MELA-AU 18 44485080 44485080 single base substitution C T intron_variant MELA-AU 18 44485080 44485080 single base substitution C T upstream_gene_variant MELA-AU 18 44486480 44486480 single base substitution G A downstream_gene_variant MELA-AU 18 44486480 44486480 single base substitution G A intron_variant MELA-AU 18 44486480 44486480 single base substitution G A upstream_gene_variant MELA-AU 18 44486569 44486569 single base substitution G A downstream_gene_variant MELA-AU 18 44486569 44486569 single base substitution G A intron_variant MELA-AU 18 44486569 44486569 single base substitution G A upstream_gene_variant MELA-AU 18 44487111 44487111 single base substitution G A downstream_gene_variant MELA-AU 18 44487111 44487111 single base substitution G A intron_variant MELA-AU 18 44487111 44487111 single base substitution G A upstream_gene_variant MELA-AU 18 44487182 44487182 single base substitution G C downstream_gene_variant MELA-AU 18 44487182 44487182 single base substitution G C intron_variant MELA-AU 18 44487182 44487182 single base substitution G C upstream_gene_variant MELA-AU 18 44487447 44487447 single base substitution G A downstream_gene_variant MELA-AU 18 44487447 44487447 single base substitution G A intron_variant MELA-AU 18 44487447 44487447 single base substitution G A upstream_gene_variant MELA-AU 18 44487869 44487869 single base substitution T A exon_variant MELA-AU 18 44487869 44487869 single base substitution T A intron_variant MELA-AU 18 44487869 44487869 single base substitution T A upstream_gene_variant MELA-AU 18 44488763 44488763 single base substitution G A intron_variant MELA-AU 18 44488763 44488763 single base substitution G A upstream_gene_variant MELA-AU 18 44489566 44489566 single base substitution G A intron_variant MELA-AU 18 44489566 44489566 single base substitution G A upstream_gene_variant MELA-AU 18 44489910 44489910 single base substitution A C intron_variant MELA-AU 18 44489910 44489910 single base substitution A C upstream_gene_variant MELA-AU 18 44490519 44490519 single base substitution G A intron_variant MELA-AU 18 44490519 44490519 single base substitution G A upstream_gene_variant MELA-AU 18 44491941 44491941 single base substitution G A intron_variant MELA-AU 18 44491941 44491941 single base substitution G A upstream_gene_variant MELA-AU 18 44492012 44492012 single base substitution C T intron_variant MELA-AU 18 44492012 44492012 single base substitution C T upstream_gene_variant MELA-AU 18 44492014 44492014 single base substitution C A intron_variant MELA-AU 18 44492014 44492014 single base substitution C A upstream_gene_variant MELA-AU 18 44492060 44492060 single base substitution G A intron_variant MELA-AU 18 44492060 44492060 single base substitution G A upstream_gene_variant MELA-AU 18 44492105 44492105 single base substitution G A intron_variant MELA-AU 18 44492105 44492105 single base substitution G A upstream_gene_variant MELA-AU 18 44492234 44492234 single base substitution T G intron_variant MELA-AU 18 44492234 44492234 single base substitution T G upstream_gene_variant MELA-AU 18 44492776 44492776 single base substitution G A intron_variant MELA-AU 18 44492776 44492776 single base substitution G A upstream_gene_variant MELA-AU 18 44493114 44493114 single base substitution G A intron_variant MELA-AU 18 44493699 44493699 single base substitution C T intron_variant MELA-AU 18 44494020 44494020 deletion of <=200bp T - intron_variant MELA-AU 18 44494115 44494115 single base substitution T G intron_variant MELA-AU 18 44494380 44494381 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 44494920 44494920 single base substitution T C intron_variant MELA-AU 18 44495822 44495822 single base substitution G A intron_variant MELA-AU 18 44498255 44498255 single base substitution C T intron_variant MELA-AU 18 44498255 44498255 single base substitution C T upstream_gene_variant MELA-AU 18 44498588 44498588 single base substitution T C intron_variant MELA-AU 18 44498588 44498588 single base substitution T C upstream_gene_variant MELA-AU 18 44498681 44498682 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 44498681 44498682 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 18 44498815 44498815 single base substitution C T intron_variant MELA-AU 18 44498815 44498815 single base substitution C T upstream_gene_variant MELA-AU 18 44501181 44501181 single base substitution C T upstream_gene_variant MELA-AU 18 44501431 44501431 single base substitution G A upstream_gene_variant MELA-AU 18 44501837 44501837 single base substitution T A upstream_gene_variant MELA-AU 18 44501848 44501848 single base substitution C T upstream_gene_variant MELA-AU 18 44501918 44501918 single base substitution C T upstream_gene_variant MELA-AU 18 44502172 44502172 single base substitution C T upstream_gene_variant MELA-AU 18 44502308 44502308 single base substitution C T upstream_gene_variant MELA-AU 18 44502547 44502548 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 18 44502923 44502923 single base substitution C T upstream_gene_variant MELA-AU 18 44503513 44503513 single base substitution T C upstream_gene_variant MELA-AU 18 44503860 44503860 single base substitution C T upstream_gene_variant MELA-AU 18 44503969 44503969 single base substitution T A upstream_gene_variant MELA-AU 18 44504050 44504050 single base substitution C T upstream_gene_variant MELA-AU 18 44504195 44504195 single base substitution C T upstream_gene_variant MELA-AU 18 44504525 44504525 single base substitution C T upstream_gene_variant MELA-AU 18 44504542 44504542 single base substitution G A upstream_gene_variant MELA-AU 18 44505045 44505045 single base substitution C T upstream_gene_variant ORCA-IN 18 44400099 44400099 single base substitution C G intron_variant ORCA-IN 18 44454502 44454502 single base substitution C T intron_variant ORCA-IN 18 44456448 44456448 single base substitution T C intron_variant ORCA-IN 18 44464509 44464509 single base substitution C T intron_variant ORCA-IN 18 44475272 44475272 single base substitution G A intron_variant OV-AU 18 44386493 44386493 single base substitution A T downstream_gene_variant OV-AU 18 44395402 44395402 single base substitution C G downstream_gene_variant OV-AU 18 44395402 44395402 single base substitution C G intron_variant OV-AU 18 44405918 44405918 single base substitution C T downstream_gene_variant OV-AU 18 44405918 44405918 single base substitution C T intron_variant OV-AU 18 44420916 44420916 single base substitution C A downstream_gene_variant OV-AU 18 44420916 44420916 single base substitution C A intron_variant OV-AU 18 44425054 44425054 single base substitution G T downstream_gene_variant OV-AU 18 44425054 44425054 single base substitution G T intron_variant OV-AU 18 44425054 44425054 single base substitution G T upstream_gene_variant OV-AU 18 44427853 44427853 single base substitution T A intron_variant OV-AU 18 44427853 44427853 single base substitution T A upstream_gene_variant OV-AU 18 44428279 44428279 single base substitution C T intron_variant OV-AU 18 44428279 44428279 single base substitution C T upstream_gene_variant OV-AU 18 44434117 44434117 single base substitution G A intron_variant OV-AU 18 44444829 44444829 single base substitution G A intron_variant OV-AU 18 44444829 44444829 single base substitution G A upstream_gene_variant OV-AU 18 44448913 44448913 single base substitution C A intron_variant OV-AU 18 44448913 44448913 single base substitution C A upstream_gene_variant OV-AU 18 44453781 44453781 single base substitution A G intron_variant OV-AU 18 44458758 44458758 single base substitution G A intron_variant OV-AU 18 44459603 44459603 single base substitution T C intron_variant OV-AU 18 44467759 44467759 single base substitution A T downstream_gene_variant OV-AU 18 44467759 44467759 single base substitution A T intron_variant OV-AU 18 44468984 44468984 single base substitution C G downstream_gene_variant OV-AU 18 44468984 44468984 single base substitution C G intron_variant OV-AU 18 44471725 44471725 single base substitution C T intron_variant OV-AU 18 44479109 44479109 single base substitution G C intron_variant OV-AU 18 44484001 44484001 single base substitution C T downstream_gene_variant OV-AU 18 44484001 44484001 single base substitution C T intron_variant OV-AU 18 44484001 44484001 single base substitution C T upstream_gene_variant OV-AU 18 44486740 44486740 single base substitution G T downstream_gene_variant OV-AU 18 44486740 44486740 single base substitution G T intron_variant OV-AU 18 44486740 44486740 single base substitution G T upstream_gene_variant OV-AU 18 44494397 44494397 single base substitution G C intron_variant OV-AU 18 44495662 44495662 single base substitution C G intron_variant OV-AU 18 44497386 44497386 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant OV-AU 18 44497386 44497386 single base substitution G A exon_variant OV-AU 18 44497386 44497386 single base substitution G A intron_variant OV-AU 18 44497386 44497386 single base substitution G A upstream_gene_variant OV-AU 18 44498301 44498301 single base substitution T C intron_variant OV-AU 18 44498301 44498301 single base substitution T C upstream_gene_variant OV-AU 18 44500021 44500021 single base substitution C T splice_donor_variant OV-AU 18 44500021 44500021 single base substitution C T upstream_gene_variant OV-AU 18 44502258 44502258 single base substitution A T upstream_gene_variant PACA-AU 18 44384027 44384027 single base substitution T A downstream_gene_variant PACA-AU 18 44384220 44384220 single base substitution T A downstream_gene_variant PACA-AU 18 44388533 44388533 deletion of <=200bp A - 3_prime_UTR_variant PACA-AU 18 44388533 44388533 deletion of <=200bp A - downstream_gene_variant PACA-AU 18 44398743 44398743 single base substitution A G intron_variant PACA-AU 18 44401048 44401048 single base substitution G A intron_variant PACA-AU 18 44408347 44408347 single base substitution T A intron_variant PACA-AU 18 44411663 44411663 single base substitution G T downstream_gene_variant PACA-AU 18 44411663 44411663 single base substitution G T intron_variant PACA-AU 18 44419901 44419901 single base substitution G T downstream_gene_variant PACA-AU 18 44419901 44419901 single base substitution G T intron_variant PACA-AU 18 44438437 44438437 single base substitution A C intron_variant PACA-AU 18 44445712 44445712 single base substitution T C intron_variant PACA-AU 18 44445712 44445712 single base substitution T C upstream_gene_variant PACA-AU 18 44458463 44458463 single base substitution C A intron_variant PACA-AU 18 44460696 44460696 single base substitution G T intron_variant PACA-AU 18 44470354 44470354 single base substitution T A downstream_gene_variant PACA-AU 18 44470354 44470354 single base substitution T A intron_variant PACA-AU 18 44475994 44475994 deletion of <=200bp A - intron_variant PACA-AU 18 44476171 44476171 single base substitution T G intron_variant PACA-AU 18 44477334 44477334 single base substitution G A intron_variant PACA-AU 18 44482724 44482724 single base substitution A G downstream_gene_variant PACA-AU 18 44482724 44482724 single base substitution A G intron_variant PACA-AU 18 44483492 44483492 single base substitution G A downstream_gene_variant PACA-AU 18 44483492 44483492 single base substitution G A intron_variant PACA-AU 18 44483492 44483492 single base substitution G A splice_region_variant PACA-AU 18 44487305 44487305 single base substitution T C downstream_gene_variant PACA-AU 18 44487305 44487305 single base substitution T C intron_variant PACA-AU 18 44487305 44487305 single base substitution T C upstream_gene_variant PACA-AU 18 44490339 44490339 single base substitution A G intron_variant PACA-AU 18 44490339 44490339 single base substitution A G upstream_gene_variant PACA-AU 18 44501821 44501821 single base substitution T C upstream_gene_variant PACA-AU 18 44503172 44503172 deletion of <=200bp C - upstream_gene_variant PACA-AU 18 44504853 44504853 single base substitution T C upstream_gene_variant PACA-CA 18 44384890 44384890 single base substitution A T downstream_gene_variant PACA-CA 18 44389002 44389002 single base substitution G A 3_prime_UTR_variant PACA-CA 18 44389002 44389002 single base substitution G A downstream_gene_variant PACA-CA 18 44391821 44391821 single base substitution C T 3_prime_UTR_variant PACA-CA 18 44391821 44391821 single base substitution C T downstream_gene_variant PACA-CA 18 44394376 44394376 single base substitution C A downstream_gene_variant PACA-CA 18 44394376 44394376 single base substitution C A intron_variant PACA-CA 18 44396081 44396081 single base substitution A C downstream_gene_variant PACA-CA 18 44396081 44396081 single base substitution A C intron_variant PACA-CA 18 44409133 44409133 single base substitution T C intron_variant PACA-CA 18 44412176 44412176 single base substitution G A downstream_gene_variant PACA-CA 18 44412176 44412176 single base substitution G A intron_variant PACA-CA 18 44419192 44419192 single base substitution C A downstream_gene_variant PACA-CA 18 44419192 44419192 single base substitution C A intron_variant PACA-CA 18 44419452 44419452 single base substitution A T downstream_gene_variant PACA-CA 18 44419452 44419452 single base substitution A T intron_variant PACA-CA 18 44421593 44421593 single base substitution T C downstream_gene_variant PACA-CA 18 44421593 44421593 single base substitution T C intron_variant PACA-CA 18 44423572 44423572 single base substitution C G downstream_gene_variant PACA-CA 18 44423572 44423572 single base substitution C G intron_variant PACA-CA 18 44424667 44424667 single base substitution A T downstream_gene_variant PACA-CA 18 44424667 44424667 single base substitution A T intron_variant PACA-CA 18 44425039 44425039 single base substitution T C downstream_gene_variant PACA-CA 18 44425039 44425039 single base substitution T C intron_variant PACA-CA 18 44425039 44425039 single base substitution T C upstream_gene_variant PACA-CA 18 44428753 44428753 single base substitution A T intron_variant PACA-CA 18 44428753 44428753 single base substitution A T upstream_gene_variant PACA-CA 18 44433493 44433493 single base substitution G A intron_variant PACA-CA 18 44437187 44437187 single base substitution A T intron_variant PACA-CA 18 44437430 44437430 deletion of <=200bp T - intron_variant PACA-CA 18 44438175 44438175 single base substitution G A intron_variant PACA-CA 18 44440265 44440265 single base substitution G A intron_variant PACA-CA 18 44449147 44449147 single base substitution G A intron_variant PACA-CA 18 44449147 44449147 single base substitution G A upstream_gene_variant PACA-CA 18 44449804 44449804 single base substitution C A intron_variant PACA-CA 18 44451385 44451385 single base substitution G C intron_variant PACA-CA 18 44453147 44453147 deletion of <=200bp A - intron_variant PACA-CA 18 44453495 44453495 single base substitution C A intron_variant PACA-CA 18 44455697 44455697 single base substitution A C intron_variant PACA-CA 18 44460195 44460195 insertion of <=200bp - A intron_variant PACA-CA 18 44465974 44465974 insertion of <=200bp - A downstream_gene_variant PACA-CA 18 44465974 44465974 insertion of <=200bp - A intron_variant PACA-CA 18 44472736 44472738 deletion of <=200bp AAT - intron_variant PACA-CA 18 44472861 44472861 single base substitution C T intron_variant PACA-CA 18 44475965 44475965 deletion of <=200bp A - intron_variant PACA-CA 18 44492091 44492091 single base substitution C T intron_variant PACA-CA 18 44492091 44492091 single base substitution C T upstream_gene_variant PACA-CA 18 44497816 44497816 single base substitution G A intron_variant PACA-CA 18 44497816 44497816 single base substitution G A upstream_gene_variant PACA-CA 18 44498182 44498182 single base substitution G T intron_variant PACA-CA 18 44498182 44498182 single base substitution G T upstream_gene_variant PACA-CA 18 44499152 44499152 deletion of <=200bp A - intron_variant PACA-CA 18 44499152 44499152 deletion of <=200bp A - upstream_gene_variant PACA-CA 18 44499786 44499786 single base substitution C T intron_variant PACA-CA 18 44499786 44499786 single base substitution C T upstream_gene_variant PACA-CA 18 44501766 44501766 single base substitution A C upstream_gene_variant PACA-CA 18 44503724 44503724 single base substitution G A upstream_gene_variant PAEN-AU 18 44428749 44428749 single base substitution T A intron_variant PAEN-AU 18 44428749 44428749 single base substitution T A upstream_gene_variant PAEN-AU 18 44429199 44429199 single base substitution T G intron_variant PAEN-AU 18 44429199 44429199 single base substitution T G upstream_gene_variant PAEN-AU 18 44431440 44431440 single base substitution T C intron_variant PAEN-AU 18 44436732 44436732 single base substitution G T intron_variant PAEN-AU 18 44465083 44465083 single base substitution C T intron_variant PAEN-AU 18 44489133 44489133 single base substitution G A intron_variant PAEN-AU 18 44489133 44489133 single base substitution G A upstream_gene_variant PAEN-IT 18 44383566 44383566 single base substitution C G downstream_gene_variant PAEN-IT 18 44408302 44408302 single base substitution T C intron_variant PAEN-IT 18 44414307 44414307 single base substitution T A downstream_gene_variant PAEN-IT 18 44414307 44414307 single base substitution T A intron_variant PBCA-DE 18 44389417 44389417 single base substitution G T 3_prime_UTR_variant PBCA-DE 18 44389417 44389417 single base substitution G T downstream_gene_variant PBCA-DE 18 44390147 44390147 single base substitution A G 3_prime_UTR_variant PBCA-DE 18 44390147 44390147 single base substitution A G downstream_gene_variant PBCA-DE 18 44392019 44392019 insertion of <=200bp - T 3_prime_UTR_variant PBCA-DE 18 44392019 44392019 insertion of <=200bp - T downstream_gene_variant PBCA-DE 18 44393297 44393297 single base substitution T C downstream_gene_variant PBCA-DE 18 44393297 44393297 single base substitution T C intron_variant PBCA-DE 18 44398326 44398326 insertion of <=200bp - G 3_prime_UTR_variant PBCA-DE 18 44398326 44398326 insertion of <=200bp - G intron_variant PBCA-DE 18 44408506 44408506 single base substitution G A intron_variant PBCA-DE 18 44410987 44410987 insertion of <=200bp - T intron_variant PBCA-DE 18 44419674 44419674 insertion of <=200bp - AA downstream_gene_variant PBCA-DE 18 44419674 44419674 insertion of <=200bp - AA intron_variant PBCA-DE 18 44431567 44431567 single base substitution A C intron_variant PBCA-DE 18 44436592 44436592 single base substitution G A intron_variant PBCA-DE 18 44442601 44442601 single base substitution T C intron_variant PBCA-DE 18 44445723 44445723 single base substitution C T intron_variant PBCA-DE 18 44445723 44445723 single base substitution C T upstream_gene_variant PBCA-DE 18 44447049 44447049 single base substitution C T intron_variant PBCA-DE 18 44447049 44447049 single base substitution C T upstream_gene_variant PBCA-DE 18 44460393 44460393 single base substitution G T intron_variant PBCA-DE 18 44462192 44462192 single base substitution C T intron_variant PBCA-DE 18 44466828 44466828 single base substitution C T downstream_gene_variant PBCA-DE 18 44466828 44466828 single base substitution C T intron_variant PBCA-DE 18 44475055 44475055 single base substitution T A intron_variant PBCA-DE 18 44477031 44477031 single base substitution G A intron_variant PBCA-DE 18 44491241 44491241 deletion of <=200bp T - intron_variant PBCA-DE 18 44491241 44491241 deletion of <=200bp T - upstream_gene_variant PBCA-DE 18 44491243 44491243 insertion of <=200bp - CA intron_variant PBCA-DE 18 44491243 44491243 insertion of <=200bp - CA upstream_gene_variant PBCA-DE 18 44492537 44492537 insertion of <=200bp - C intron_variant PBCA-DE 18 44492537 44492537 insertion of <=200bp - C upstream_gene_variant PBCA-DE 18 44494522 44494522 deletion of <=200bp C - intron_variant PBCA-DE 18 44494607 44494607 single base substitution A G intron_variant PBCA-DE 18 44497759 44497759 single base substitution A G intron_variant PBCA-DE 18 44497759 44497759 single base substitution A G upstream_gene_variant PBCA-DE 18 44498165 44498165 insertion of <=200bp - C intron_variant PBCA-DE 18 44498165 44498165 insertion of <=200bp - C upstream_gene_variant PBCA-DE 18 44501121 44501121 single base substitution C T upstream_gene_variant PRAD-CA 18 44391868 44391868 single base substitution C G 3_prime_UTR_variant PRAD-CA 18 44391868 44391868 single base substitution C G downstream_gene_variant PRAD-CA 18 44433255 44433255 single base substitution T A intron_variant PRAD-CA 18 44463065 44463065 single base substitution G A intron_variant PRAD-CA 18 44468486 44468486 single base substitution G T downstream_gene_variant PRAD-CA 18 44468486 44468486 single base substitution G T intron_variant PRAD-CA 18 44498972 44498972 single base substitution G A intron_variant PRAD-CA 18 44498972 44498972 single base substitution G A upstream_gene_variant PRAD-UK 18 44396200 44396200 single base substitution A G downstream_gene_variant PRAD-UK 18 44396200 44396200 single base substitution A G intron_variant PRAD-UK 18 44404020 44404020 single base substitution T A downstream_gene_variant PRAD-UK 18 44404020 44404020 single base substitution T A intron_variant PRAD-UK 18 44432248 44432258 deletion of <=200bp AGCTAGGGTAA - intron_variant PRAD-UK 18 44433072 44433072 single base substitution T G intron_variant PRAD-UK 18 44433885 44433885 single base substitution C A intron_variant PRAD-UK 18 44454552 44454552 single base substitution T A intron_variant PRAD-UK 18 44456818 44456818 single base substitution C A intron_variant PRAD-UK 18 44457250 44457252 deletion of <=200bp AAG - intron_variant PRAD-UK 18 44458834 44458839 deletion of <=200bp AAAAAC - intron_variant PRAD-UK 18 44467388 44467388 single base substitution A G downstream_gene_variant PRAD-UK 18 44467388 44467388 single base substitution A G intron_variant PRAD-UK 18 44495309 44495309 single base substitution G A intron_variant PRAD-UK 18 44501838 44501838 single base substitution T A upstream_gene_variant READ-US 18 44407966 44407966 single base substitution C A 3_prime_UTR_variant READ-US 18 44407966 44407966 single base substitution C A exon_variant READ-US 18 44407966 44407966 single base substitution C A missense_variant R198S 594G>T READ-US 18 44407966 44407966 single base substitution C A missense_variant R488S 1464G>T READ-US 18 44424085 44424085 single base substitution C A 3_prime_UTR_variant READ-US 18 44424085 44424085 single base substitution C A downstream_gene_variant READ-US 18 44424085 44424085 single base substitution C A exon_variant READ-US 18 44424085 44424085 single base substitution C A stop_gained E325* 973G>T READ-US 18 44424085 44424085 single base substitution C A stop_gained E35* 103G>T RECA-EU 18 44385577 44385577 single base substitution T C downstream_gene_variant RECA-EU 18 44386345 44386345 single base substitution T G downstream_gene_variant RECA-EU 18 44390482 44390482 single base substitution C T 3_prime_UTR_variant RECA-EU 18 44390482 44390482 single base substitution C T downstream_gene_variant RECA-EU 18 44406142 44406142 single base substitution T A downstream_gene_variant RECA-EU 18 44406142 44406142 single base substitution T A intron_variant RECA-EU 18 44408988 44408988 single base substitution T C intron_variant RECA-EU 18 44409912 44409912 single base substitution G A intron_variant RECA-EU 18 44430920 44430920 single base substitution A G intron_variant RECA-EU 18 44436893 44436893 single base substitution G C intron_variant RECA-EU 18 44444841 44444841 single base substitution C A intron_variant RECA-EU 18 44444841 44444841 single base substitution C A upstream_gene_variant RECA-EU 18 44456970 44456970 single base substitution C T intron_variant RECA-EU 18 44466484 44466484 single base substitution C G downstream_gene_variant RECA-EU 18 44466484 44466484 single base substitution C G intron_variant RECA-EU 18 44486056 44486056 single base substitution T G downstream_gene_variant RECA-EU 18 44486056 44486056 single base substitution T G exon_variant RECA-EU 18 44486056 44486056 single base substitution T G intron_variant RECA-EU 18 44486056 44486056 single base substitution T G upstream_gene_variant RECA-EU 18 44490820 44490820 single base substitution G A intron_variant RECA-EU 18 44490820 44490820 single base substitution G A upstream_gene_variant SKCA-BR 18 44387346 44387346 single base substitution A T downstream_gene_variant SKCA-BR 18 44389085 44389085 single base substitution G A 3_prime_UTR_variant SKCA-BR 18 44389085 44389085 single base substitution G A downstream_gene_variant SKCA-BR 18 44393483 44393483 single base substitution G A downstream_gene_variant SKCA-BR 18 44393483 44393483 single base substitution G A intron_variant SKCA-BR 18 44397559 44397559 single base substitution G A downstream_gene_variant SKCA-BR 18 44397559 44397559 single base substitution G A intron_variant SKCA-BR 18 44400452 44400452 single base substitution A C intron_variant SKCA-BR 18 44406324 44406324 single base substitution G A downstream_gene_variant SKCA-BR 18 44406324 44406324 single base substitution G A intron_variant SKCA-BR 18 44406771 44406771 single base substitution G A downstream_gene_variant SKCA-BR 18 44406771 44406771 single base substitution G A intron_variant SKCA-BR 18 44409990 44409990 single base substitution C A intron_variant SKCA-BR 18 44409999 44409999 single base substitution C T intron_variant SKCA-BR 18 44411691 44411691 single base substitution G A downstream_gene_variant SKCA-BR 18 44411691 44411691 single base substitution G A intron_variant SKCA-BR 18 44411857 44411857 single base substitution G A downstream_gene_variant SKCA-BR 18 44411857 44411857 single base substitution G A intron_variant SKCA-BR 18 44421188 44421188 single base substitution G A downstream_gene_variant SKCA-BR 18 44421188 44421188 single base substitution G A intron_variant SKCA-BR 18 44422639 44422639 single base substitution G T downstream_gene_variant SKCA-BR 18 44422639 44422639 single base substitution G T intron_variant SKCA-BR 18 44424169 44424169 single base substitution C T downstream_gene_variant SKCA-BR 18 44424169 44424169 single base substitution C T intron_variant SKCA-BR 18 44427189 44427189 single base substitution G A intron_variant SKCA-BR 18 44427189 44427189 single base substitution G A upstream_gene_variant SKCA-BR 18 44427930 44427930 single base substitution A C intron_variant SKCA-BR 18 44427930 44427930 single base substitution A C upstream_gene_variant SKCA-BR 18 44429657 44429657 single base substitution G A intron_variant SKCA-BR 18 44429657 44429657 single base substitution G A upstream_gene_variant SKCA-BR 18 44433292 44433293 deletion of <=200bp TA - intron_variant SKCA-BR 18 44438336 44438336 single base substitution G A intron_variant SKCA-BR 18 44439011 44439011 single base substitution A C intron_variant SKCA-BR 18 44452723 44452723 single base substitution G A intron_variant SKCA-BR 18 44453829 44453829 single base substitution A C intron_variant SKCA-BR 18 44453832 44453832 single base substitution T C intron_variant SKCA-BR 18 44453879 44453879 single base substitution G A intron_variant SKCA-BR 18 44454379 44454379 single base substitution A G intron_variant SKCA-BR 18 44455045 44455045 single base substitution C T intron_variant SKCA-BR 18 44456660 44456662 deletion of <=200bp ATT - intron_variant SKCA-BR 18 44462138 44462138 single base substitution T C intron_variant SKCA-BR 18 44462974 44462974 single base substitution T A intron_variant SKCA-BR 18 44464170 44464170 single base substitution A G intron_variant SKCA-BR 18 44468592 44468592 single base substitution G A downstream_gene_variant SKCA-BR 18 44468592 44468592 single base substitution G A intron_variant SKCA-BR 18 44470360 44470360 single base substitution G A downstream_gene_variant SKCA-BR 18 44470360 44470360 single base substitution G A intron_variant SKCA-BR 18 44472870 44472870 single base substitution T A intron_variant SKCA-BR 18 44476376 44476376 single base substitution C T intron_variant SKCA-BR 18 44478490 44478490 single base substitution G A intron_variant SKCA-BR 18 44479013 44479013 single base substitution G A intron_variant SKCA-BR 18 44479181 44479181 single base substitution C A intron_variant SKCA-BR 18 44480171 44480171 single base substitution T A intron_variant SKCA-BR 18 44481209 44481209 single base substitution A T downstream_gene_variant SKCA-BR 18 44481209 44481209 single base substitution A T intron_variant SKCA-BR 18 44483989 44483989 single base substitution G A downstream_gene_variant SKCA-BR 18 44483989 44483989 single base substitution G A intron_variant SKCA-BR 18 44483989 44483989 single base substitution G A upstream_gene_variant SKCA-BR 18 44485577 44485577 single base substitution T C downstream_gene_variant SKCA-BR 18 44485577 44485577 single base substitution T C intron_variant SKCA-BR 18 44485577 44485577 single base substitution T C upstream_gene_variant SKCA-BR 18 44488051 44488051 single base substitution T C intron_variant SKCA-BR 18 44488051 44488051 single base substitution T C upstream_gene_variant SKCA-BR 18 44492137 44492137 single base substitution G A intron_variant SKCA-BR 18 44492137 44492137 single base substitution G A upstream_gene_variant SKCA-BR 18 44492863 44492863 single base substitution G A intron_variant SKCA-BR 18 44492863 44492863 single base substitution G A upstream_gene_variant SKCA-BR 18 44492888 44492888 single base substitution T C intron_variant SKCA-BR 18 44492888 44492888 single base substitution T C upstream_gene_variant SKCA-BR 18 44493869 44493869 single base substitution G A intron_variant SKCA-BR 18 44500981 44500981 single base substitution C T upstream_gene_variant SKCA-BR 18 44504338 44504338 single base substitution C T upstream_gene_variant SKCM-US 18 44408073 44408073 single base substitution G A 3_prime_UTR_variant SKCM-US 18 44408073 44408073 single base substitution G A exon_variant SKCM-US 18 44408073 44408073 single base substitution G A missense_variant P163S 487C>T SKCM-US 18 44408073 44408073 single base substitution G A missense_variant P453S 1357C>T SKCM-US 18 44409801 44409801 single base substitution G A 3_prime_UTR_variant SKCM-US 18 44409801 44409801 single base substitution G A exon_variant SKCM-US 18 44409801 44409801 single base substitution G A missense_variant S121F 362C>T SKCM-US 18 44409801 44409801 single base substitution G A missense_variant S411F 1232C>T SKCM-US 18 44424036 44424036 single base substitution C T 3_prime_UTR_variant SKCM-US 18 44424036 44424036 single base substitution C T downstream_gene_variant SKCM-US 18 44424036 44424036 single base substitution C T exon_variant SKCM-US 18 44424036 44424036 single base substitution C T missense_variant R341Q 1022G>A SKCM-US 18 44424036 44424036 single base substitution C T missense_variant R51Q 152G>A SKCM-US 18 44424774 44424774 single base substitution C A 3_prime_UTR_variant SKCM-US 18 44424774 44424774 single base substitution C A downstream_gene_variant SKCM-US 18 44424774 44424774 single base substitution C A exon_variant SKCM-US 18 44424774 44424774 single base substitution C A missense_variant R297L 890G>T SKCM-US 18 44424774 44424774 single base substitution C A missense_variant R7L 20G>T SKCM-US 18 44426691 44426691 single base substitution A C 3_prime_UTR_variant SKCM-US 18 44426691 44426691 single base substitution A C 5_prime_UTR_variant SKCM-US 18 44426691 44426691 single base substitution A C exon_variant SKCM-US 18 44426691 44426691 single base substitution A C synonymous_variant S280S 840T>G SKCM-US 18 44426691 44426691 single base substitution A C upstream_gene_variant SKCM-US 18 44426698 44426698 single base substitution G A 3_prime_UTR_variant SKCM-US 18 44426698 44426698 single base substitution G A 5_prime_UTR_variant SKCM-US 18 44426698 44426698 single base substitution G A exon_variant SKCM-US 18 44426698 44426698 single base substitution G A missense_variant S278F 833C>T SKCM-US 18 44426698 44426698 single base substitution G A upstream_gene_variant SKCM-US 18 44470728 44470728 single base substitution G A downstream_gene_variant SKCM-US 18 44470728 44470728 single base substitution G A exon_variant SKCM-US 18 44470728 44470728 single base substitution G A intron_variant SKCM-US 18 44470728 44470728 single base substitution G A missense_variant P105L 314C>T SKCM-US 18 44470728 44470728 single base substitution G A missense_variant P96L 287C>T SKCM-US 18 44470763 44470763 single base substitution T C downstream_gene_variant SKCM-US 18 44470763 44470763 single base substitution T C exon_variant SKCM-US 18 44470763 44470763 single base substitution T C intron_variant SKCM-US 18 44470763 44470763 single base substitution T C synonymous_variant E84E 252A>G SKCM-US 18 44470763 44470763 single base substitution T C synonymous_variant E93E 279A>G STAD-US 18 44392421 44392421 single base substitution A G 3_prime_UTR_variant STAD-US 18 44392421 44392421 single base substitution A G missense_variant I614T 1841T>C STAD-US 18 44392466 44392466 single base substitution C A 3_prime_UTR_variant STAD-US 18 44392466 44392466 single base substitution C A missense_variant S599I 1796G>T STAD-US 18 44392485 44392485 single base substitution T C 3_prime_UTR_variant STAD-US 18 44392485 44392485 single base substitution T C missense_variant T593A 1777A>G STAD-US 18 44392503 44392503 single base substitution T C 3_prime_UTR_variant STAD-US 18 44392503 44392503 single base substitution T C missense_variant S587G 1759A>G STAD-US 18 44407934 44407934 single base substitution C T 3_prime_UTR_variant STAD-US 18 44407934 44407934 single base substitution C T exon_variant STAD-US 18 44407934 44407934 single base substitution C T missense_variant S209N 626G>A STAD-US 18 44407934 44407934 single base substitution C T missense_variant S499N 1496G>A STAD-US 18 44409833 44409833 deletion of <=200bp A - splice_region_variant STAD-US 18 44416357 44416357 insertion of <=200bp - CA 3_prime_UTR_variant STAD-US 18 44416357 44416357 insertion of <=200bp - CA exon_variant STAD-US 18 44416357 44416357 insertion of <=200bp - CA frameshift_variant D389V? STAD-US 18 44416357 44416357 insertion of <=200bp - CA frameshift_variant D99V? STAD-US 18 44444174 44444174 insertion of <=200bp - A 5_prime_UTR_variant STAD-US 18 44444174 44444174 insertion of <=200bp - A exon_variant STAD-US 18 44444174 44444174 insertion of <=200bp - A frameshift_variant F179F? STAD-US 18 44444174 44444174 insertion of <=200bp - A intron_variant STAD-US 18 44444187 44444187 single base substitution T C 5_prime_UTR_variant STAD-US 18 44444187 44444187 single base substitution T C exon_variant STAD-US 18 44444187 44444187 single base substitution T C intron_variant STAD-US 18 44444187 44444187 single base substitution T C missense_variant Q175R 524A>G STAD-US 18 44470593 44470593 deletion of <=200bp T - downstream_gene_variant STAD-US 18 44470593 44470593 deletion of <=200bp T - exon_variant STAD-US 18 44470593 44470593 deletion of <=200bp T - frameshift_variant N150 STAD-US 18 44470593 44470593 deletion of <=200bp T - intron_variant STAD-US 18 44470842 44470842 single base substitution C T downstream_gene_variant STAD-US 18 44470842 44470842 single base substitution C T exon_variant STAD-US 18 44470842 44470842 single base substitution C T intron_variant STAD-US 18 44470842 44470842 single base substitution C T missense_variant R58Q 173G>A STAD-US 18 44470842 44470842 single base substitution C T missense_variant R65Q 194G>A STAD-US 18 44470842 44470842 single base substitution C T missense_variant R67Q 200G>A STAD-US 18 44470945 44470945 single base substitution G A downstream_gene_variant STAD-US 18 44470945 44470945 single base substitution G A exon_variant STAD-US 18 44470945 44470945 single base substitution G A intron_variant STAD-US 18 44470945 44470945 single base substitution G A missense_variant R24C 70C>T STAD-US 18 44470945 44470945 single base substitution G A missense_variant R31C 91C>T STAD-US 18 44470945 44470945 single base substitution G A missense_variant R33C 97C>T STAD-US 18 44470945 44470945 single base substitution G A missense_variant R61C 181C>T STAD-US 18 44470945 44470945 single base substitution G A missense_variant R67C 199C>T THCA-US 18 44470887 44470887 single base substitution G A downstream_gene_variant THCA-US 18 44470887 44470887 single base substitution G A exon_variant THCA-US 18 44470887 44470887 single base substitution G A intron_variant THCA-US 18 44470887 44470887 single base substitution G A missense_variant A43V 128C>T THCA-US 18 44470887 44470887 single base substitution G A missense_variant A50V 149C>T THCA-US 18 44470887 44470887 single base substitution G A missense_variant A52V 155C>T THCA-US 18 44470887 44470887 single base substitution G A missense_variant A80V 239C>T THCA-US 18 44470887 44470887 single base substitution G A missense_variant A86V 257C>T UCEC-US 18 44398353 44398353 single base substitution G T intron_variant UCEC-US 18 44398353 44398353 single base substitution G T missense_variant T279N 836C>A UCEC-US 18 44398353 44398353 single base substitution G T missense_variant T569N 1706C>A UCEC-US 18 44400988 44400988 single base substitution G A 3_prime_UTR_variant UCEC-US 18 44400988 44400988 single base substitution G A missense_variant S229L 686C>T UCEC-US 18 44400988 44400988 single base substitution G A missense_variant S519L 1556C>T UCEC-US 18 44407979 44407979 single base substitution G T 3_prime_UTR_variant UCEC-US 18 44407979 44407979 single base substitution G T exon_variant UCEC-US 18 44407979 44407979 single base substitution G T missense_variant P194H 581C>A UCEC-US 18 44407979 44407979 single base substitution G T missense_variant P484H 1451C>A UCEC-US 18 44409714 44409714 single base substitution G A 3_prime_UTR_variant UCEC-US 18 44409714 44409714 single base substitution G A exon_variant UCEC-US 18 44409714 44409714 single base substitution G A missense_variant P150L 449C>T UCEC-US 18 44409714 44409714 single base substitution G A missense_variant P440L 1319C>T UCEC-US 18 44424037 44424037 single base substitution G A 3_prime_UTR_variant UCEC-US 18 44424037 44424037 single base substitution G A downstream_gene_variant UCEC-US 18 44424037 44424037 single base substitution G A exon_variant UCEC-US 18 44424037 44424037 single base substitution G A missense_variant R341W 1021C>T UCEC-US 18 44424037 44424037 single base substitution G A missense_variant R51W 151C>T UCEC-US 18 44426737 44426737 single base substitution G T 3_prime_UTR_variant UCEC-US 18 44426737 44426737 single base substitution G T 5_prime_UTR_variant UCEC-US 18 44426737 44426737 single base substitution G T exon_variant UCEC-US 18 44426737 44426737 single base substitution G T missense_variant S265Y 794C>A UCEC-US 18 44426737 44426737 single base substitution G T upstream_gene_variant UCEC-US 18 44435577 44435577 single base substitution C T missense_variant D196N 586G>A UCEC-US 18 44435577 44435577 single base substitution C T splice_region_variant UCEC-US 18 44470550 44470550 single base substitution C T downstream_gene_variant UCEC-US 18 44470550 44470550 single base substitution C T exon_variant UCEC-US 18 44470550 44470550 single base substitution C T intron_variant UCEC-US 18 44470550 44470550 single base substitution C T synonymous_variant T164T 492G>A UCEC-US 18 44470595 44470595 single base substitution T G downstream_gene_variant UCEC-US 18 44470595 44470595 single base substitution T G exon_variant UCEC-US 18 44470595 44470595 single base substitution T G intron_variant UCEC-US 18 44470595 44470595 single base substitution T G missense_variant K149N 447A>C UCEC-US 18 44470616 44470616 single base substitution G A downstream_gene_variant UCEC-US 18 44470616 44470616 single base substitution G A exon_variant UCEC-US 18 44470616 44470616 single base substitution G A intron_variant UCEC-US 18 44470616 44470616 single base substitution G A synonymous_variant V142V 426C>T UCEC-US 18 44470800 44470800 single base substitution G A downstream_gene_variant UCEC-US 18 44470800 44470800 single base substitution G A exon_variant UCEC-US 18 44470800 44470800 single base substitution G A intron_variant UCEC-US 18 44470800 44470800 single base substitution G A missense_variant S72L 215C>T UCEC-US 18 44470800 44470800 single base substitution G A missense_variant S79L 236C>T UCEC-US 18 44470800 44470800 single base substitution G A missense_variant S81L 242C>T UCEC-US 18 44470803 44470803 single base substitution G T downstream_gene_variant UCEC-US 18 44470803 44470803 single base substitution G T exon_variant UCEC-US 18 44470803 44470803 single base substitution G T intron_variant UCEC-US 18 44470803 44470803 single base substitution G T stop_gained S71* 212C>A UCEC-US 18 44470803 44470803 single base substitution G T stop_gained S78* 233C>A UCEC-US 18 44470803 44470803 single base substitution G T stop_gained S80* 239C>A UCEC-US 18 44470843 44470843 single base substitution G A downstream_gene_variant UCEC-US 18 44470843 44470843 single base substitution G A exon_variant UCEC-US 18 44470843 44470843 single base substitution G A intron_variant UCEC-US 18 44470843 44470843 single base substitution G A stop_gained R58* 172C>T UCEC-US 18 44470843 44470843 single base substitution G A stop_gained R65* 193C>T UCEC-US 18 44470843 44470843 single base substitution G A stop_gained R67* 199C>T UCEC-US 18 44470854 44470854 single base substitution C T downstream_gene_variant UCEC-US 18 44470854 44470854 single base substitution C T exon_variant UCEC-US 18 44470854 44470854 single base substitution C T intron_variant UCEC-US 18 44470854 44470854 single base substitution C T missense_variant R54H 161G>A UCEC-US 18 44470854 44470854 single base substitution C T missense_variant R61H 182G>A UCEC-US 18 44470854 44470854 single base substitution C T missense_variant R63H 188G>A UCEC-US 18 44470867 44470867 single base substitution C A downstream_gene_variant UCEC-US 18 44470867 44470867 single base substitution C A exon_variant UCEC-US 18 44470867 44470867 single base substitution C A intron_variant UCEC-US 18 44470867 44470867 single base substitution C A stop_gained E50* 148G>T UCEC-US 18 44470867 44470867 single base substitution C A stop_gained E57* 169G>T UCEC-US 18 44470867 44470867 single base substitution C A stop_gained E59* 175G>T UCEC-US 18 44470867 44470867 single base substitution C A stop_gained E87* 259G>T UCEC-US 18 44470867 44470867 single base substitution C A stop_gained E93* 277G>T UCEC-US 18 44470944 44470944 single base substitution C T downstream_gene_variant UCEC-US 18 44470944 44470944 single base substitution C T exon_variant UCEC-US 18 44470944 44470944 single base substitution C T intron_variant UCEC-US 18 44470944 44470944 single base substitution C T missense_variant R24H 71G>A UCEC-US 18 44470944 44470944 single base substitution C T missense_variant R31H 92G>A UCEC-US 18 44470944 44470944 single base substitution C T missense_variant R33H 98G>A UCEC-US 18 44470944 44470944 single base substitution C T missense_variant R61H 182G>A UCEC-US 18 44470944 44470944 single base substitution C T missense_variant R67H 200G>A UCEC-US 18 44497293 44497293 single base substitution C A 5_prime_UTR_variant UCEC-US 18 44497293 44497293 single base substitution C A exon_variant UCEC-US 18 44497293 44497293 single base substitution C A intron_variant UCEC-US 18 44497293 44497293 single base substitution C A stop_gained E6* 16G>T UCEC-US 18 44497293 44497293 single base substitution C A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-D1-A16F-01 COSM988634 c.98G>A p.R33H Substitution - Missense 18:46890981-46890981 - YULAPE COSM1711306 c.833C>T p.S278F Substitution - Missense 18:46846735-46846735 - TCGA-EE-A29D-06 COSM3526018 c.279A>G p.E93E Substitution - coding silent 18:46890800-46890800 - 169 COSM3730059 c.1203-1G>T p.? Unknown 18:46829868-46829868 - LAU165 COSM233102 c.1664C>T p.S555F Substitution - Missense 18:46815334-46815334 - TCGA-E2-A10C-01 COSM438156 c.1281G>A p.M427I Substitution - Missense 18:46829789-46829789 - Pat_24_A COSM5854209 c.1067C>T p.P356L Substitution - Missense 18:46836492-46836492 - TCGA-EE-A2MJ-06 COSM1711306 c.833C>T p.S278F Substitution - Missense 18:46846735-46846735 - PT19_1 COSM5899745 c.622C>T p.Q208* Substitution - Nonsense 18:46855578-46855578 - HCC159T COSM3959215 c.1032G>T p.L344F Substitution - Missense 18:46844063-46844063 - TCGA-EE-A29C-06 COSM3526010 c.1022G>A p.R341Q Substitution - Missense 18:46844073-46844073 - TCGA-A8-A09Z-01 COSM3371070 c.155C>T p.A52V Substitution - Missense 18:46890924-46890924 - TCGA-A8-A09Z-01 COSM3821504 c.176A>G p.E59G Substitution - Missense 18:46890903-46890903 - LAU165 COSM235198 c.1665C>T p.S555S Substitution - coding silent 18:46815333-46815333 - 9096_T COSM5040284 c.1634C>T p.S545L Substitution - Missense 18:46820947-46820947 - L21 COSM1480350 c.1173_1174insA p.A392fs*4 Insertion - Frameshift 18:46836385-46836386 - sysucc-1365T COSM5766695 c.1320G>A p.P440P Substitution - coding silent 18:46829750-46829750 - PD7204a COSM5795926 c.1708G>T p.D570Y Substitution - Missense 18:46812591-46812591 - TCGA-AX-A0J1-01 COSM988616 c.586G>A p.D196N Substitution - Missense 18:46855614-46855614 - TCGA-AX-A05Z-01 COSM188455 c.1556C>T p.S519L Substitution - Missense 18:46821025-46821025 - TCGA-GN-A26C-01 COSM3526012 c.890G>T p.R297L Substitution - Missense 18:46844811-46844811 - TCGA-HU-A4GT-01 COSM4072325 c.1841T>C p.I614T Substitution - Missense 18:46812458-46812458 - TCGA-09-1659-01 COSM78300 c.1361G>T p.C454F Substitution - Missense 18:46828106-46828106 - OCC06PT COSM88636 c.1672C>A p.P558T Substitution - Missense 18:46815326-46815326 - T3535 COSM4714257 c.553C>T p.P185S Substitution - Missense 18:46864195-46864195 - TCGA-AP-A051-01 COSM988606 c.1451C>A p.P484H Substitution - Missense 18:46828016-46828016 - TCGA-29-1691-01 COSM1324576 c.610G>T p.D204Y Substitution - Missense 18:46855590-46855590 - T3090 COSM4714261 c.183T>C p.Y61Y Substitution - coding silent 18:46890896-46890896 - TCGA-39-5019-01 COSM709474 c.1060A>T p.T354S Substitution - Missense 18:46836499-46836499 - TCGA-BR-6452-01 COSM4072336 c.97C>T p.R33C Substitution - Missense 18:46890982-46890982 - C658 COSM4443329 c.173G>A p.R58Q Substitution - Missense 18:46890906-46890906 - PT16_1 COSM5898567 c.1745C>T p.S582F Substitution - Missense 18:46812554-46812554 - 202_T COSM3959221 c.243G>T p.S81S Substitution - coding silent 18:46890836-46890836 - HN_63081 COSM125351 c.1013C>G p.T338S Substitution - Missense 18:46844082-46844082 - TCGA-EE-A17Y-06 COSM3526006 c.1357C>T p.P453S Substitution - Missense 18:46828110-46828110 - S02404 COSM5700756 c.140G>C p.S47T Substitution - Missense 18:46890939-46890939 - TCGA-BR-8372-01 COSM4072326 c.1796G>T p.S599I Substitution - Missense 18:46812503-46812503 - BCM617T COSM4955951 c.118A>G p.R40G Substitution - Missense 18:46890961-46890961 - TCGA-AM-5820-01 COSM3692134 c.727-1G>T p.? Unknown 18:46846842-46846842 - 824_T COSM3959217 c.935G>T p.G312V Substitution - Missense 18:46844766-46844766 - TCGA-D1-A167-01 COSM988628 c.199C>T p.R67* Substitution - Nonsense 18:46890880-46890880 - TCGA-AM-5820-01 COSM3692132 c.1136A>G p.K379R Substitution - Missense 18:46836423-46836423 - PT38 COSM1711306 c.833C>T p.S278F Substitution - Missense 18:46846735-46846735 - TCGA-B5-A0JY-01 COSM988614 c.794C>A p.S265Y Substitution - Missense 18:46846774-46846774 - 343 COSM1742219 c.1294G>T p.E432* Substitution - Nonsense 18:46829776-46829776 - CDGLIV0707A0251_T COSM5040666 c.1756A>T p.T586S Substitution - Missense 18:46812543-46812543 - TCGA-G4-6628-01 COSM1388879 c.420T>C p.P140P Substitution - coding silent 18:46890659-46890659 - ESCC_BICR_008T COSM5428846 c.890G>A p.R297Q Substitution - Missense 18:46844811-46844811 - TCGA-AN-A0AK-01 COSM3821502 c.1457C>T p.A486V Substitution - Missense 18:46828010-46828010 - TCGA-A4-A6HP-01 COSM3989566 c.1145C>T p.T382I Substitution - Missense 18:46836414-46836414 - 255 COSM3731950 c.500-9delT p.? Unknown 18:46864257-46864257 - TCGA-E2-A14P-01 COSM438155 c.1613A>G p.H538R Substitution - Missense 18:46820968-46820968 - ESCC_74 COSM5634736 c.727-2A>T p.? Unknown 18:46846843-46846843 - SNU-175 COSM2878252 c.1577C>T p.P526L Substitution - Missense 18:46821004-46821004 - TCGA-AX-A0J1-01 COSM988630 c.188G>A p.R63H Substitution - Missense 18:46890891-46890891 - TCGA-BR-4357-01 COSM4072330 c.1496G>A p.S499N Substitution - Missense 18:46827971-46827971 - XHDG18 COSM4768782 c.1561G>C p.D521H Substitution - Missense 18:46821020-46821020 - TCGA-AP-A056-01 COSM988610 c.1021C>T p.R341W Substitution - Missense 18:46844074-46844074 - CCC3 COSM3717916 c.256G>A p.D86N Substitution - Missense 18:46890823-46890823 - STC232 COSM5056054 c.134T>C p.L45S Substitution - Missense 18:46890945-46890945 - 24T COSM109001 c.538A>T p.I180F Substitution - Missense 18:46864210-46864210 - 824_T COSM3959219 c.934G>T p.G312C Substitution - Missense 18:46844767-46844767 - CAL33 COSM4602910 c.463_464insT p.D155fs*4 Insertion - Frameshift 18:46890615-46890616 - CSCC-49-T COSM4476310 c.205C>T p.L69F Substitution - Missense 18:46890874-46890874 - TCGA-BR-8361-01 COSM4072332 c.524A>G p.Q175R Substitution - Missense 18:46864224-46864224 - TCGA-ED-A7PZ-01 COSM4916941 c.1422A>C p.I474I Substitution - coding silent 18:46828045-46828045 - Pat_32_A COSM5854211 c.740C>T p.P247L Substitution - Missense 18:46846828-46846828 - LUAD_E00623 COSM353983 c.191G>T p.R64L Substitution - Missense 18:46890888-46890888 - sysucc-1370T COSM2878294 c.82C>T p.R28W Substitution - Missense 18:46890997-46890997 - CSCC-41-T COSM988622 c.426C>T p.V142V Substitution - coding silent 18:46890653-46890653 - LUAD-E00918 COSM365116 c.1648+1G>T p.? Unknown 18:46820932-46820932 - TCGA-18-3415-01 COSM709472 c.285C>T p.D95D Substitution - coding silent 18:46890794-46890794 - DLBCL-PatientJ COSM221447 c.494G>A p.S165N Substitution - Missense 18:46890585-46890585 - 587332 COSM1220516 c.1628G>A p.S543N Substitution - Missense 18:46820953-46820953 - TCGA-D8-A1JG-01 COSM1480350 c.1173_1174insA p.A392fs*4 Insertion - Frameshift 18:46836385-46836386 - TCGA-BR-6452-01 COSM4072327 c.1777A>G p.T593A Substitution - Missense 18:46812522-46812522 - T578 COSM4714253 c.1219C>A p.L407I Substitution - Missense 18:46829851-46829851 - ATL020 COSM5706744 c.1433C>T p.S478F Substitution - Missense 18:46828034-46828034 - SJHGG073_A COSM4971409 c.135G>T p.L45F Substitution - Missense 18:46890944-46890944 - YUDUTY COSM1711304 c.1399G>A p.V467I Substitution - Missense 18:46828068-46828068 - TCGA-BS-A0UV-01 COSM988624 c.242C>T p.S81L Substitution - Missense 18:46890837-46890837 - TCGA-AP-A056-01 COSM988626 c.239C>A p.S80* Substitution - Nonsense 18:46890840-46890840 - TCGA-BS-A0UV-01 COSM988636 c.16G>T p.E6* Substitution - Nonsense 18:46917330-46917330 - DN110BC COSM5795926 c.1708G>T p.D570Y Substitution - Missense 18:46812591-46812591 - TCGA-ER-A19M-06 COSM3526008 c.1232C>T p.S411F Substitution - Missense 18:46829838-46829838 - TCGA-A5-A0G5-01 COSM988612 c.889C>G p.R297G Substitution - Missense 18:46844812-46844812 - PD23578a COSM5777756 c.982A>C p.T328P Substitution - Missense 18:46844113-46844113 - TCGA-B6-A0RG-01 COSM438154 c.1805G>C p.S602T Substitution - Missense 18:46812494-46812494 - TCGA-EI-6917-01 COSM3422213 c.973G>T p.E325* Substitution - Nonsense 18:46844122-46844122 - TCGA-CA-6718-01 COSM188455 c.1556C>T p.S519L Substitution - Missense 18:46821025-46821025 - TCGA-F5-6814-01 COSM3422211 c.1464G>T p.R488S Substitution - Missense 18:46828003-46828003 - TCGA-FY-A3WA-01 COSM3371070 c.155C>T p.A52V Substitution - Missense 18:46890924-46890924 - TCGA-EE-A29D-06 COSM3526016 c.314C>T p.P105L Substitution - Missense 18:46890765-46890765 - TCGA-A5-A0GP-01 COSM988618 c.492G>A p.T164T Substitution - coding silent 18:46890587-46890587 - T3202 COSM4714255 c.1141C>T p.P381S Substitution - Missense 18:46836418-46836418 - TCGA-DA-A1HW-06 COSM3526014 c.840T>G p.S280S Substitution - coding silent 18:46846728-46846728 - TCGA-66-2770-01 COSM709473 c.433G>A p.D145N Substitution - Missense 18:46890646-46890646 - TCGA-CD-8535-01 COSM4072334 c.200G>A p.R67Q Substitution - Missense 18:46890879-46890879 - YUZEST COSM1711302 c.1660C>T p.L554F Substitution - Missense 18:46815338-46815338 - TCGA-C5-A1ME-01 COSM4820616 c.1438G>A p.E480K Substitution - Missense 18:46828029-46828029 - 214 COSM4424306 c.1144A>G p.T382A Substitution - Missense 18:46836415-46836415 - Region-11 COSM5749066 c.25-2A>T p.? Unknown 18:46891056-46891056 - EGC15 COSM5056052 c.733G>A p.A245T Substitution - Missense 18:46846835-46846835 - 587256 COSM1220518 c.997A>G p.S333G Substitution - Missense 18:46844098-46844098 - TCGA-B5-A0JR-01 COSM988622 c.426C>T p.V142V Substitution - coding silent 18:46890653-46890653 - PT52 COSM5940805 c.582C>T p.S194S Substitution - coding silent 18:46864166-46864166 - 2250168 COSM5030660 c.1608_1609insCA p.H538fs*40 Insertion - Frameshift 18:46820972-46820973 - TCGA-HF-7132-01 COSM4072328 c.1759A>G p.S587G Substitution - Missense 18:46812540-46812540 - TCGA-D1-A17A-01 COSM988608 c.1319C>T p.P440L Substitution - Missense 18:46829751-46829751 - CSCC-4-T COSM4526431 c.1395G>T p.K465N Substitution - Missense 18:46828072-46828072 - 308_T COSM3959215 c.1032G>T p.L344F Substitution - Missense 18:46844063-46844063 - ESCC_BICR_054T COSM5444244 c.986C>T p.A329V Substitution - Missense 18:46844109-46844109 - CCC3T COSM3717916 c.256G>A p.D86N Substitution - Missense 18:46890823-46890823 - S00827 COSM314140 c.180G>T p.L60F Substitution - Missense 18:46890899-46890899 - TCGA-AX-A05Z-01 COSM988632 c.175G>T p.E59* Substitution - Nonsense 18:46890904-46890904 - TCGA-61-1722-01 COSM188455 c.1556C>T p.S519L Substitution - Missense 18:46821025-46821025 - T2766 COSM4714259 c.341C>T p.P114L Substitution - Missense 18:46890738-46890738 - BCM617T COSM4955951 c.118A>G p.R40G Substitution - Missense 18:46890961-46890961 - 372-01-7TD COSM5418483 c.799G>T p.V267F Substitution - Missense 18:46846769-46846769 - TCGA-AB-2832-03 COSM1318399 c.1519T>G p.Y507D Substitution - Missense 18:46821062-46821062 - HCC098T COSM3959215 c.1032G>T p.L344F Substitution - Missense 18:46844063-46844063 - 103975 COSM94966 c.277G>A p.E93K Substitution - Missense 18:46890802-46890802 - TCGA-B5-A0JY-01 COSM988620 c.447A>C p.K149N Substitution - Missense 18:46890632-46890632 - S02295 COSM5689143 c.371A>G p.Q124R Substitution - Missense 18:46890708-46890708 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.657844 18q21.1 603567

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Synonymous p.S280S c.840T>G 18 44426691 CM A G IntronicSNV . c.24+4691T>C 18 44492594 CLL C A Missense p.C454F c.1361G>T 18 44408069 OV C A Missense p.L60F c.180G>T 18 44470862 SCLC C A Missense p.R297L c.890G>T 18 44424774 CM C A Nonsense p.E334* c.1000G>T 18 44424058 HNSC CC AA Missense p.R352I c.1055_1056delinsTT 18 44416466 LUAD C G Missense p.S602T c.1805G>C 18 44392457 BRCA C T Missense p.D145N c.433G>A 18 44470609 LUSC C T Missense p.R33H c.98G>A 18 44470944 UCEC C T Missense p.R341Q c.1022G>A 18 44424036 CM C T Missense p.S499N c.1496G>A 18 44407934 STAD C T Synonymous p.T164T c.492G>A 18 44470550 UCEC G A 3-UTRSNV . c.1863+13C>T 18 44392386 CM G A Missense p.A52V c.155C>T 18 44470887 THCA G A Missense p.H318Y c.952C>T 18 44424712 LUAD G A Missense p.P440L c.1319C>T 18 44409714 UCEC G A Missense p.P453S c.1357C>T 18 44408073 CM G A Missense p.P575L c.1724C>T 18 44392538 CM G A Missense p.S278F c.833C>T 18 44426698 CM G A Nonsense p.Q419* c.1255C>T 18 44409778 CM G A Synonymous p.D95D c.285C>T 18 44470757 LUSC G A Synonymous p.L372L c.1116C>T 18 44416406 CM G A Synonymous p.V142V c.426C>T 18 44470616 UCEC G C Missense p.T338S c.1013C>G 18 44424045 HNSC T A Missense p.T354S c.1060A>T 18 44416462 LUSC T C Missense p.H538R c.1613A>G 18 44400931 BRCA TC - SpliceAcceptorDeletion . c.862-1_862delGA 18 44424802 RCCC - T Frameshift p.A392Sfs*4 c.1173dupA 18 44416349 BRCA